Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
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1. An interruption, cessation, or disorder of body function, system, or organ. SYN: illness, morbus, sickness. 2. A morbid entity characterized usually by at least two of these criteria: recognized etiologic agent(s), identifiable group of signs and symptoms, or consistent anatomic alterations. SEE ALSO: syndrome. 3. Literally, dis-ease, the opposite of ease, when something is wrong with a bodily function. [Eng. dis- priv. + ease]
- aaa d. endemic anemia of ancient Egypt, ascribed in the Papyrus Ebers to intestinal infestation with ancylostoma; now called ancylostomiasis.
- ABO hemolytic d. of the newborn erythroblastosis fetalis due to maternal-fetal incompatibility with respect to an antigen of the ABO blood group; the fetus possesses A or B antigen which is lacking in the mother, and the mother produces immune antibody which causes hemolysis of fetal erythrocytes.
- accumulation d. a d. characterized by abnormal accumulation of a metabolic product in certain cells and tissues; examples include the mucopolysaccharidoses, lipoidoses.
- Adams-Stokes d. SYN: Adams-Stokes syndrome.
- adaptation diseases diseases falling theoretically into Selye concept of the general-adaptation syndrome.
- Addison d. SYN: chronic adrenocortical insufficiency.
- Addison-Biermer d. SYN: pernicious anemia.
- akamushi d. SYN: tsutsugamushi d..
- Albers-Schönberg d. SYN: osteopetrosis.
- Albright d. SYN: McCune-Albright syndrome.
- Alexander d. a rare, fatal central nervous system degenerative d. of infants, characterized by psychomotor retardation, seizures, and paralysis; megaloencephaly is associated with widespread leukodystrophic changes, especially in the frontal lobes.
- Alpers d. SYN: poliodystrophia cerebri progressiva infantilis.
- altitude d. SYN: altitude sickness.
- Alzheimer d. a progressive degenerative d. of the brain that causes impairment of memory and dementia manifested by confusion, visual-spatial disorientation, inability to calculate, and deterioration of judgment; delusions and hallucinations may occur. The most common degenerative brain disorder, Alzheimer d. makes up 70% of all cases of dementia. Onset is usually in late middle life, and death typically ensues in 5–10 years. SYN: Alzheimer dementia, presenile dementia (2), dementia presenilis, primary neuronal degeneration, primary senile dementia.Alzheimer d. (AD) ranks 4th as a cause of death in the U.S., and its annual cost to the nation is nearly $100 billion. Onset is typically insidious, with a progressive deterioration in the ability to learn and retain information. In recalling and repeating new material, the patient makes intrusion errors (insertion of irrelevant words or ideas) and resorts to confabulation. Orientation and judgment decline; 50% of patients experience depression, 20% delusions. Agitation occurs in 70%. Numerous drugs, including many not considered psychoactive, can aggravate the symptoms of AD; clinical depression can mask dementia, and vice versa. Behavioral disturbances are the major indications for the use of psychotropic drugs and physical restraints, and substantially influence the quality of life of demented elderly patients. Neurologic findings may be essentially normal, but myoclonus, bradykinesia, rigidity, and seizures can occur late in the d.. Death is usually due to sepsis associated with urinary or pulmonary infection. Atrophy of the cerebral cortex, with consequent enlargement of sulci and ventricles, may be grossly evident on imaging studies. Histologically the cortex, hippocampus, and amygdala show atrophy of neurons, with cytoplasmic vacuoles and argentophilic granules; distortion of intracellular neurofibrils (neurofibrillary tangles) due to excessive phosphorylation of microtubular tau proteins; and plaques composed of granular or filamentous argentophilic masses with a core of the 42-aminoacid form of β-amyloid (Aβ42). The concentration of tau protein in the cerebrospinal fluid is increased while that of Aβ42 is decreased. Lewy bodies (eosinophilic inclusions in the cytoplasm of CNS neurons, believed to be products of altered neurofilament metabolism and recognized as a hallmark of idiopathic parkinsonism) occur in cortical neurons of some persons with dementia, including AD. Dementia associated with Lewy bodies tends to appear before age 60, to progress rapidly, and to display parkinsonian features (tremor, rigidity). Nearly all persons with Down syndrome who live past the age of 40 develop cognitive decline associated with histologic findings typical of AD. Advancing age and a history of head injury are also risk factors for AD. Although most cases are sporadic, about 10% of patients have a family history of AD. Familial d., which is often characterized by early onset and rapid course, has been traced to mutations of several genes. At least half of all patients with early-onset familial AD show mutations in the presenilin-1 gene on chromosome 14. Mutations in the presenilin-2 gene on chromosome 1 or the amyloid precursor protein gene on chromosome 21 have been found in smaller kindreds with familial d.. Late-onset familial d. has been traced to mutations in an apolipoprotein E (APOE) locus on chromosome 19. All of these mutations are associated with increased production of Aβ42. It has been suggested that incorporation of presenilin proteins into neurons programs them for death through apoptosis. Cognitive decline in AD has been attributed in part to a deficiency of the neurotransmitter acetylcholine, and therapy with reversible cholinesterase inhibitors (donezepil, galanthamine, metrifonate, tacrine) has improved cognition and slowed progression of dementia in some patients. Numerous other agents (including nicotine, ginkgo extract, vitamin E, selegiline, ergoloid mesylates, and ibuprofen) have shown slight efficacy in some studies. Experimental evidence suggests that administration of estrogen to postmenopausal women retards onset and progression of nonfamilial AD.
- anarthritic rheumatoid d. rheumatoid d. without arthritis.
- Anders d. SYN: adiposis dolorosa.
- Andersen d. SYN: type 4 glycogenosis.
- aortoiliac occlusive d. obstruction of the abdominal aorta and its main branches by atherosclerosis.
- Aran-Duchenne d. SYN: amyotrophic lateral sclerosis.
- Australian X d. SYN: Murray Valley encephalitis.
- autoimmune d. any disorder in which loss of function or destruction of normal tissue arises from humoral or cellular immune responses to the body's own tissue constituents; may be systemic, as systemic lupus erythematosus, or organ specific, as thyroiditis.
- aviator's d. syndrome resembling decompression sickness occurring in occupants of airplanes that reach very high altitudes without adequate pressurization of the cabin. SEE ALSO: decompression sickness.
- Ayerza d. SYN: Ayerza syndrome.
- Azorean d. SYN: Machado-Joseph d..
- Baelz d. SYN: cheilitis glandularis.
- Baló d. SYN: encephalitis periaxialis concentrica.
- Baltic myoclonus d. one of the familial light sensitive myoclonic epilepsies. Unlike Lafora body polymyoclonus, where inclusion bodies are seen in the brain cells, the prognosis is often favorable. Probably an autosomal recessive disorder.
- Bamberger d. 1. SYN: saltatory spasm. 2. SYN: polyserositis.
- Bamberger-Marie d. SYN: hypertrophic pulmonary osteoarthropathy.
- Bang d. SYN: bovine brucellosis.
- Banti d. SYN: Banti syndrome.
- Barclay-Baron d. SYN: vallecular dysphagia.
- Barlow d. SYN: infantile scurvy.
- Barraquer d. SYN: progressive lipodystrophy.
- Basedow d. SYN: Graves d..
- Batten d. cerebral sphingolipidosis, late juvenile type. SYN: ceroid lipofuscinosis.
- Batten-Mayou d. cerebral sphingolipidosis, late infantile and juvenile types.
- Bazin d. SYN: erythema induratum.
- Bechterew d. SYN: spondylitis deformans.
- Becker d. an obscure South African cardiomyopathy leading to rapidly fatal congestive heart failure and idiopathic mural endomyocardial d..
- Béguez César d. SYN: Chédiak-Higashi syndrome.
- Behçet d. SYN: Behçet syndrome.
- Behr d. SYN: Behr syndrome.
- Berger d. SYN: focal glomerulonephritis.
- Bernard-Soulier d. (ber-nar′-sool-ya) an autosomal recessive disorder of absent or decreased platelet membrane glycoproteins Ib, IX, and V (the receptor for factor VIII R). This deficiency can lead to a failure to bind von Willebrand factor, causing moderate bleeding.
- Bernhardt d. SYN: meralgia paresthetica.
- Besnier-Boeck-Schaumann d. SYN: sarcoidosis.
- Best d. [MIM*153700] autosomal dominant macular degeneration beginning during the first years of life. SYN: vitelliform degeneration, vitelliform retinal dystrophy.
- Biermer d. SYN: pernicious anemia.
- Binswanger d. one of the causes of multi-infarct dementia, in which there are many infarcts and lacunae in the white matter, with relative sparing of the cortex and basal ganglia. SYN: Binswanger encephalopathy, encephalitis subcorticalis chronica, subcortical arteriosclerotic encephalopathy.
- bird-breeder's d. SYN: bird-breeder's lung.
- blinding d. SYN: onchocerciasis.
- Blocq d. SYN: astasia-abasia.
- Blount d. tibia vara; nonrachitic bowlegs in children. SYN: Blount-Barber d..
- Blount-Barber d. SYN: Blount d..
- blue d. SYN: Rocky Mountain spotted fever.
- Boeck d. SYN: sarcoidosis.
- Bornholm d. SYN: epidemic pleurodynia. [Bornholm, Danish island in the Baltic where the d. was first described]
- Bosin d. SYN: subacute sclerosing panencephalitis.
- Bourneville d. SYN: tuberous sclerosis.
- Bourneville-Pringle d. facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognized as angiofibromas.
- Bowen d. a form of intraepidermal carcinoma characterized by the development of slowly enlarging pinkish or brownish papules or eroded plaques covered with a thickened horny layer; microscopically, there is dyskeratosis with large round epidermal cells with large nuclei and pale-staining cytoplasm which are scattered through all levels of the epidermis. SYN: Bowen precancerous dermatosis.
- Brailsford-Morquio d. SYN: Morquio syndrome.
- brancher glycogen storage d. type of glycogen storage d., due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme). SYN: brancher deficiency glycogenosis, debrancher deficiency.
- Breda d. SYN: espundia.
- Bright d. nonsuppurative nephritis with albuminuria and edema, associated in fatal cases with large white kidneys; or with hematuria and red kidneys; or with contracted granular kidneys, corresponding to the stages of glomerulonephritis now termed subacute or membranous, acute, and chronic, respectively.
- Brill d. SYN: Brill-Zinsser d..
- Brill-Zinsser d. an endogenous reinfection associated with the “carrier state” in persons who previously had epidemic typhus fever; it is a rather mild d. and may be mistaken for endemic (murine) typhus; first described by Brill in New York City but not recognized as a recrudescent form of epidemic typhus until after the work of Zinsser. SYN: Brill d., recrudescent typhus fever, recrudescent typhus.
- Briquet d. hysterical neurosis, conversion type.
- Brissaud d. SYN: tic.
- Brodie d. 1. SYN: Brodie knee. 2. hysterical spinal neuralgia, simulating Pott d., following a trauma.
- bronzed d. SYN: bronze diabetes. See hemochromatosis.
- Bruck d. a d. marked by osteogenesis imperfecta, ankylosis of the joints, and muscular atrophy.
- Brushfield-Wyatt d. a familial disorder characterized by unilateral nevus, contralateral hemiplegia, hemianopia, cerebral angioma, and mental retardation; possibly a variant of Sturge-Weber syndrome. SYN: nevoid amentia.
- Buerger d. SYN: thromboangiitis obliterans.
- bulging eye d. SYN: gedoelstiosis.
- bulky d. term used for large tumors or lymph node s; usually more resistant to conventional therapy. SYN: bulky lymphadenopathy.
- Bürger-Grütz d. obsolete term for idiopathic hyperlipemia.
- Buschke d. SYN: scleredema adultorum.
- Busquet d. an osteoperiostitis of the metatarsal bones, leading to exostoses on the dorsum of the foot.
- Byler d. [MIM*211600] progressive intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, dwarfism, and occasionally death; due to an error in conjugated bile salt metabolism; autosomal recessive inheritance, caused by mutation in the familial intrahepatic cholestasis 1 gene (FIC1) on chromosome 18q. [Byler, an Amish kindred]
- Caffey d. SYN: infantile cortical hyperostosis.
- caisson d. (ka′son) SYN: decompression sickness. [Fr. caisson (fr. caisse, a chest) a water-tight box or cylinder containing air under high pressure used in sinking structural pilings underwater]
- calcium pyrophosphate deposition d. (CPPD) a crystal deposition arthritis that may simulate gout.
- Calvé-Perthes d. SYN: Legg-Calvé-Perthes d..
- Canavan d. [MIM*271900] progressive degenerative d. of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3–4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; there is increased urinary excretion of N-acetylaspartic acid. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there is increased brain volume and weight and spongy degeneration in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in Jewish and non-Jewish affected individuals. SEE ALSO: leukodystrophy. SYN: Canavan sclerosis, Canavan-van Bogaert-Bertrand d., spongy degeneration of infancy.
- Canavan-van Bogaert-Bertrand d. SYN: Canavan d..
- Caroli d. [MIM*263200] congenital cystic dilation of the intrahepatic bile ducts, sometimes associated with intrahepatic stones and biliary obstruction; may be a part of the phenotype of infantile polycystic kidney d..
- Carrington d. SYN: chronic eosinophilic pneumonia.
- Carrión d. SYN: Oroya fever.
- Castleman d. SYN: benign giant lymph node hyperplasia.
- cat-bite d. rat-bite fever, presumably spread from rats to cats and thus to humans. SYN: cat-bite fever.
- catscratch d. (CSD) an infection that causes chronic benign adenopathy in most cases, especially in children and young adults, usually associated with a cat scratch or bite. In most cases it is caused by the bacterium Bartonella henselae. The lymphadenopathy usually resolves spontaneously within a period of several months. The infection may cause other clinical symptoms such as fever of unknown origin, encephalitis, microabscess in the liver and spleen, and osteomyelitis. SYN: benign inoculation lymphoreticulosis, benign inoculation reticulosis, catscratch fever, regional granulomatous lymphadenitis.A primary lesion (typically a solitary papule 2–5 mm in diameter) develops at the site of inoculation in 50–95% of cases, usually within 1–2 weeks of inoculation. Regional lymphadenopathy commonly follows, in 75% of patients involving only a single lymph node. The node is usually tender and approximately 10% suppurate. Histopathologic study of an infected node shows lymphoid hyperplasia and granuloma formation with central areas of stellate necrosis containing neutrophils. About one-third of patients experience transitory systemic symptoms such as fever, headache, malaise, or rash. Spontaneous resolution of lymphadenopathy generally occurs in 6–12 weeks. Recovery from CSD confers immunity to further attacks. The Centers for D. Control estimates the incidence of CSD in the U.S. at 2.5 cases per 100,000 population per year. Most patients are under 21 years of age, and males are affected more often than females. In 1988, a bacterium named Afipia felis was cultured from the lymph node s of patients with CSD, and for a time was believed to be the cause of the d.. More recently, serologic studies have shown that Bartonella hensalae, a Gram-negative bacterium, is probably the cause of most typical cases of CSD. The organism can sometimes be visualized with Warthin-Starry silver stain in infected lymph node s. A serum immunofluorescent antibody test is available. Cats are the principal reservoir for Bartonella henselae; 25–40% of clinically healthy cats in the U.S. have antibody to the organism. Fleas have been shown to transmit infection from one cat to another. The majority of infected cats do not become ill. Although CSD is generally benign and self-limited, infection with Bartonella henselae is occasionally associated with severe or systemic involvement, including Parinaud's oculoglandular syndrome (granulomatous conjunctivitis with preauricular lymphadenitis), encephalopathy, myelitis, osteolytic lesions, erythema nodosum, etythema marginatum, thrombocytopenic purpura, nonimmune hemolytic anemia, arthritis, and pneumonia. In immunocompromised persons, particularly those with AIDS, infection with Bartonella henselae (perhaps not always associated with cats) takes the form of bacillary angiomatosis (BA), in which nodular tumors made up of densely proliferating blood vessel s appear in the skin, bone, brain, liver, spleen, and other tissues. Antibiotic treatment is not recommended in uncomplicated catscratch d.. Doxycycline, ciprofloxacin, and gentamicin may be used in encephalitis or disseminated d.. Whereas these agents consistently lead to rapid improvement in bacillary angiomatosis, the response of glandular inflammation and other symptoms of catscratch d. is unpredictable.
- celiac d. a d. occurring in children and adults characterized by sensitivity to gluten, with chronic inflammation and atrophy of the mucosa of the upper small intestine; manifestations include diarrhea, malabsorption, steatorrhea, and nutritional and vitamin deficiencies. SYN: celiac sprue, celiac syndrome, gluten enteropathy.
- cement d. the osteolysis that frequently occurs in association with loosening of cemented total hip replacements; the microscopic particles of polymethylmethacrylate cement induce a biologic reaction by osteoclasts leading to bone resorption and progressive bone loss.
- central core d. [MIM*117000] a congenital myopathy characterized by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibers stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical, caused by mutation in the ryanodine receptor-1 gene (RYR1) on 19q.
- cerebrovascular d. general term for a brain dysfunction caused by an abnormality of the cerebral blood supply.
- Chagas d. SYN: South American trypanosomiasis.
- Chagas-Cruz d. SYN: South American trypanosomiasis.
- α chain d. a vague or indefinite term; could be used for α-heavy-chain d. (a lymphoplasma cell proliferative d. usually seen in Mediterranean men, characterized by intestinal involvement with steatorrhea, often progressive with fatal outcome) or α thalassemia (a genetic abnormality in the alpha globin chain of hemoglobin).
- Charcot d. SYN: amyotrophic lateral sclerosis.
- Charcot-Marie-Tooth d. SYN: peroneal muscular atrophy.
- Cheadle d. SYN: infantile scurvy.
- Chédiak-Higashi d. SYN: Chédiak-Higashi syndrome.
- Chiari d. SYN: Chiari syndrome.
- Chicago d. obsolete term for North American blastomycosis.
- cholesterol ester storage d. [MIM*278000] a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q. SYN: cholesteryl ester storage d., Wolman d., Wolman xanthomatosis.
- cholesteryl ester storage d. SYN: cholesterol ester storage d..
- Christensen-Krabbe d. SYN: poliodystrophia cerebri progressiva infantilis.
- Christian d. 1. SYN: Hand-Schüller-Christian d.. 2. SYN: relapsing febrile nodular nonsuppurative panniculitis.
- Christmas d. SYN: hemophilia B.
- chronic active liver d. SYN: chronic hepatitis.
- chronic granulomatous d. a congenital defect in the killing of phagocytosed bacteria by polymorphonuclear leukocytes, which cannot increase their oxygen metabolism either because of defective cytochrome [MIM*233710 and MIM*233690] or other specific factor deficiencies [MIM*233700 and MIM*306400]. As a result there is an increased susceptibility to severe infection by catalase-positive microorganisms; inheritance is usually autosomal recessive or X-linked. SYN: congenital dysphagocytosis, granulomatous d..
- chronic hypertensive d. the chronic accumulative effects of long-standing high blood pressure on such vital organs as the heart, kidney, and brain.
- chronic obstructive pulmonary d. (COPD) general term used for those diseases with permanent or temporary narrowing of small bronchi, in which forced expiratory flow is slowed, especially when no etiologic or other more specific term can be applied.
- chylomicron retention d. an inherited disorder in which apolipoprotein B-48 is retained in intestine and absent in plasma; results in fat malabsorption.
- Coats d. SYN: exudative retinitis.
- Cockayne d. SYN: Cockayne syndrome.
- cold hemagglutinin d. a condition associated with the presence of hemagglutinating autoantibody active in vivo but in vitro particularly or solely active in the cold; when the concentration of IgM antibody is high there may be increased serum viscosity, but clinical manifestations (due to hemagglutination) usually appear following exposure to cold; hemolysis usually is mild but may be severe, resulting in autoimmune hemolytic anemia, cold antibody type. SYN: cold agglutinin syndrome.
- collagen d., collagen-vascular d. a group of generalized diseases affecting connective tissue and frequently characterized by fibrinoid necrosis or vasculitis; in some collagen diseases, auto-immunization, particularly antinuclear antibodies, has been shown and circulating immune complexes are found. The term is not entirely acceptable because there is no evidence that collagen is primarily involved; “collagen” was once synonymous with “connective tissue” rather than describing a specific fibrinous protein in that tissue. SEE ALSO: connective-tissue d..
- combined system d. SYN: subacute combined degeneration of the spinal cord.
- communicable d. any d. that is transmissible by infection or contagion directly or through the agency of a vector.
- connective-tissue d. a group of generalized diseases affecting connective tissue, especially those not inherited as mendelian characteristics; rheumatic fever and rheumatoid arthritis were first proposed as such diseases, and other so-called collagen diseases have been added.
- Conradi d. [MIM*215100 & MIM*302950] SYN: chondrodysplasia calcificans congenita.
- Conradi-Hünermann d. SYN: chondrodysplasia calcificans congenita.
- contagious d. an infectious d. transmissible by direct or indirect contact; now used synonymously with communicable d..
- Cori d. SYN: type 3 glycogenosis.
- Corrigan d. SYN: aortic regurgitation.
- Cowden d. [MIM*158350] hypertrichosis and gingival fibromatosis from infancy, accompanied by postpubertal fibroadenomatous breast enlargement; papules of the face are characteristic of multiple trichilemmomas. SYN: multiple hamartoma syndrome.
- Creutzfeldt-Jakob d. (CJD) a progressive neurologic disorder, one of the subacute spongiform encephalopathies caused by prions. Clinical features of CJD include a progressive cerebellar syndrome, including ataxia, abnormalities of gait and speech, and dementia. In most patients, these symptoms are followed by involuntary movements (myoclonus) and the appearance of a typical diagnostic electroencephalogram tracing (burst suppression, consisting of intermittent sharp and slow wave complexes on a flat background). The average survival is less than 1 year after onset of symptoms. Changes in the CSF are absent or nonspecific. Mild cortical atrophy and ventricular dilation may be grossly evident. On microscopic examination the distinctive finding is spongiform encephalopathy in gray matter throughout the brain and spinal cord. Severe neuronal loss and gliosis are also present and mild demyelination may occur. Ultrastructural changes include formation of intracytoplasmic vacuoles, the basis for the spongy appearance. CJD occurs worldwide at a rate of about 1–2 cases per million population per year; most cases are sporadic, but 10–12% are inherited. The peak incidence is between 55 and 65 years of age; the d. is rare before age 30. Cases of iatrogenic Creutzfeldt-Jakob d. have been associated with corneal transplants, electrode implants, dura mater grafts, and administration of human growth hormone. CJD is caused by a prion protein (an abnormal isoform of amyloid protein) that serves as a nucleating factor, inducing abnormalities in other proteins. This protein is detectable by Western blot early in the course of clinical d.. Prion diseases besides CJD include Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, and kuru in humans; scrapie in sheep and goats; bovine spongiform encephalopathy (mad cow d.) in cattle; and similar encephalopathies and wasting syndromes in other species. All these diseases have been shown to be transmissible in laboratory animals. SEE ALSO: bovine spongiform encephalopathy.An unusual number of cases of Creutzfeldt-Jakob d. were reported in young persons in Great Britain during the 1990s. These patients displayed ataxia, memory impairment, dementia, and myoclonus. Besides the characteristic spongiform changes of CJD, autopsy specimens from these patients showed unusual amyloid plaques with dense eosinophilic centers extensively distributed throughout the cerebrum and cerebellum. These plaques, visible with routine staining methods, had not previously been noted in Creutzfeldt-Jakob d., but did resemble plaques seen in kuru. In addition, these patients did not display the EEG changes characteristic of classical CJD. An association is suspected between this regional cluster of variant Creutzfeldt-Jakob d. and an epizootic of bovine spongiform encephalopathy that affected more than 150,000 cattle in Britain between 1986 and 1996. However, review of mortality statistics shows no increase in deaths due to CJD among butchers, farmers, and veterinarians in England and Wales between 1979 and 1996. See Also bovine spongiform encephalopathy.
- Crigler-Najjar d. SYN: Crigler-Najjar syndrome.
- Crocq d. SYN: acrocyanosis.
- Crohn d. SYN: regional enteritis.
- Crouzon d. SYN: Crouzon syndrome.
- Cruveilhier-Baumgarten d. SYN: Cruveilhier-Baumgarten syndrome.
- Cushing d. adrenal hyperplasia (Cushing syndrome) caused by an ACTH-secreting basophil adenoma of the pituitary. SYN: Cushing pituitary basophilism.
- Cushing d. of the omentum central obesity in association with glucocorticoid excess, in which adipose stromal cells of the omental fat, but not subcutaneous tissue; can generate active cortisol from inactive cortisone. Patients have increased cortisol production and urinary cortisol excretion but no abnormality in the hypothalamico-pituitary-adrenal axis.
- cystic d. of the breast fibrocystic condition of the breasts.
- cystic d. of renal medulla [MIM*256100] presence of small cysts in the renal medulla associated with anemia, sodium depletion, and chronic renal failure. It is of two types: 1) fatal autosomal recessive or juvenile type (also called familial juvenile nephrophthisis), beginning at about age 10 with an average duration of 6–8 years; 2) autosomal dominant or adult type. SYN: microcystic d. of renal medulla.
- cytomegalic inclusion d. caused by Cytomegalovirus, a member of the Herpesviridae family; the presence of inclusion bodies within the cytoplasm and nuclei of enlarged cells of various organs of newborn infants dying with jaundice, hepatomegaly, splenomegaly, purpura, thrombocytopenia, and fever; the condition also occurs, at all ages, as a complication of other diseases in which immune mechanisms are severely depressed, and has been found incidentally in salivary gland epithelium, apparently as a localized or mild infection (salivary gland virus d.). SYN: cytomegalovirus d., inclusion body d..
- cytomegalovirus d. SYN: cytomegalic inclusion d..
- Daae d. SYN: epidemic pleurodynia.
- Danielssen d. SYN: anesthetic leprosy.
- Danielssen-Boeck d. SYN: anesthetic leprosy.
- Darier d. SYN: keratosis follicularis.
- Davies d. SYN: endomyocardial fibrosis.
- decompression d. SYN: decompression sickness.
- deer-fly d. SYN: tularemia.
- deficiency d. any d. resulting from undernutrition or an inadequacy of calories, proteins, essential amino acid s, fatty acid s, vitamins, or trace minerals.
- Degos d. SYN: malignant atrophic papulosis.
- Dejerine d. SYN: Dejerine-Sottas d..
- Dejerine-Sottas d. a familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterized by foot pain and paresthesias, followed by symmetrical weakness and wasting of the distal limbs; one of the causes of stork legs; patients are wheelchair-bound at an early age; peripheral nerves are palpably enlarged and non-tender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance; an autosomal dominant form also exists; both forms can be caused by mutations in the peripheral myelin protein gene 22 (PMP22) on 17q or in the myelin protein zero gene (MPZ) on 1q. SYN: Dejerine d., hereditary hypertrophic neuropathy, progressive hypertrophic polyneuropathy.
- demyelinating d. generic term for a group of diseases, of unknown cause, in which there is extensive loss of the myelin in the central nervous system, as in multiple sclerosis and Schilder d..
- dense-deposit d. See membranoproliferative glomerulonephritis.
- de Quervain d. fibrosis of the sheath of a tendon of the thumb. SYN: radial styloid tendovaginitis.
- Dercum d. SYN: adiposis dolorosa.
- Deutschländer d. tumor of one of the metatarsal bones;
- Devic d. SYN: neuromyelitis optica.
- diffuse Lewy body d. a degenerative cerebral disorder of the elderly, characterized initially by progressive dementia or psychosis, and subsequently by parkinsonian findings, usually with severe rigidity; other manifestations include involuntary movements, myoclonus, dysphagia, and orthostatic hypotension. Pathologically, Lewy bodies are present diffusely in the nuclei of the hypothalamus, basal forebrain, and brainstem. SYN: Lewy body dementia.
- Di Guglielmo d. the acute form of erythremic myelosis. SYN: Di Guglielmo syndrome.
- disappearing bone d. extensive decalcification of a single bone; of unknown cause, sometimes associated with angioma. SYN: Gorham d., Gorham syndrome.
- diverticular d. symptomatic congenital or acquired diverticula of any portion of the gastrointestinal tract. Such diverticula occur in about 15% of the population but rarely cause symptoms.
- dog d. SYN: phlebotomus fever.
- dominantly inherited Lévi d. SYN: snub-nose dwarfism.
- drug-induced d. a toxic reaction to or morbid condition resulting from the administration of a drug.
- Dubois d. SYN: Dubois abscesses, under abscess.
- Duchenne d. SYN: Duchenne dystrophy.
- Duchenne-Aran d. SYN: amyotrophic lateral sclerosis.
- Duhring d. SYN: dermatitis herpetiformis.
- Dukes d. SYN: exanthema subitum.
- Duncan d. [MIM*308240] SYN: X-linked lymphoproliferative syndrome. SYN: lymphoproliferative syndrome.
- Dupuytren d. of the foot SYN: plantar fibromatosis.
- Dutton d. african tick-borne relapsing fever caused by Borrelia duttonii and spread by the soft tick, Ornithodoros moubata. SYN: Dutton relapsing fever.
- Eales d. peripheral retinal periphlebitis causing recurrent retinal or intravitreous hemorrhages in young adults.
- Ebstein d. SYN: Ebstein anomaly.
- echinococcus d. SYN: echinococcosis.
- Eisenmenger d. SYN: Eisenmenger complex.
- elephant man's d. 1. SYN: Proteus syndrome. 2. SYN: neurofibromatosis.
- elevator d. respiratory distress arising in persons who work in grain elevators resulting from inhalation of dusts or insects.
- emotional d. mental illness.
- Engelmann d. SYN: diaphysial dysplasia.
- English sweating d. a d. of unknown nature that appeared in England and spread over Europe in 1485, 1508 and 1528–30 and was characterized by heavy sweats, prostration, and a high fatality rate. SYN: sudor anglicus.
- eosinophilic endomyocardial d. a restrictive cardiomyopathy associated with hyperproduction of eosinophiles and their cardiac infiltration, clinically characterized by diastolic and later systolic ventricular failure. Sometimes associated with Churg-Strauss syndrome or eosinophilic pericarditis.
- epidemic d. marked increase in prevalence of a d. in a specific population or area, usually with an environmental cause, such as an infectious or toxic agent.
- Epstein d. SYN: diphtheroid (1).
- Erb d. SYN: progressive bulbar paralysis.
- Erb-Charcot d. 1. SYN: spastic diplegia. 2. SYN: spastic paraplegia.
- Erdheim d. SYN: cystic medial necrosis.
- ergot alkaloid-associated heart d. heart d. caused by endomyocardial fibrosis which extends into valve structures, producing stenosis and/or regurgitation, associated with ergot alkaloid use.
- Eulenburg d. SYN: congenital paramyotonia.
- extramammary Paget d. an intraepidermal form of mucinous adenocarcinoma, most commonly in the anogenital region, presenting as erythematous plaques in the elderly, which may be associated with sweat gland or regional visceral carcinoma. SYN: Paget d. (3).
- extrapyramidal d. a general term for a number of disorders caused by abnormalities of the basal ganglia or certain brainstem or thalamic nuclei; characterized by motor deficits, loss of postural reflexes, bradykinesia, tremor, rigidity, and various involuntary movements. SYN: extrapyramidal motor system d..
- Fabry d. [MIM*301500] due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids ( e.g., globotriaosylceramide) in endothelial cells in blood vessel walls; clinical findings include angiokeratomas on the thighs, buttocks, and genitalia, hypohidrosis, paresthesia in extremities, cornea verticillata, and spokelike posterior subcapsular cataracts; death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation the α-galactosidase gene (GLA) on Xq. SYN: diffuse angiokeratoma, glycolipid lipidosis.
- Fahr d. progressive calcific deposition in the walls of blood vessel s of the basal ganglia, in young to middle-aged persons; occasionally associated with mental retardation and extrapyramidal symptoms.
- Farber d. SYN: disseminated lipogranulomatosis.
- Favre-Durand-Nicholas d. SYN: venereal lymphogranuloma.
- Favre-Racouchot d. comedones developing on sun-damaged skin due to obstruction of pilosebaceous follicles by solar elastosis. SYN: Favre-Racouchot syndrome, solar comedo.
- Fazio-Londe d. [MIM*211500] a progressive bulbar palsy affecting the brainstem; due to motor neuron degeneration; a variant of spinal muscular atrophy (q.v.).
- Feer d. SYN: acrodynia (2).
- femoropopliteal occlusive d. obstruction of the femoral and popliteal arteries by atherosclerosis.
- fibrocystic d. of the pancreas SYN: cystic fibrosis.
- fifth d. SYN: erythema infectiosum. [after scarlatina, morbilli, rubella, and fourth d.]
- Filatov d. SYN: Filatov-Dukes d..
- Filatov-Dukes d. an exanthem-producing infectious d. of childhood of unknown etiology. SYN: Filatov d., parascarlatina, scarlatinella, scarlatinoid (2).
- fish eye d. an inherited disorder resulting in low HDL cholesterol and corneal opacities; also, low LCAT activity.
- flax-dresser's d. chronic obstructive pulmonary d. caused by inhalation of particles of unprocessed flax; a form of byssinosis. SEE ALSO: byssinosis.
- Flegel d. SYN: hyperkeratosis lenticularis perstans.
- flint d. SYN: chalicosis.
- focal metastatic d. presence of a single area of metastasis of a malignant tumor or infection distant from the primary lesion.
- foot-and-mouth d. (FMD) a highly infectious d. of wide distribution and great economic importance, occurring in cattle, swine, sheep, goats and all wild and domestic cloven-footed animals caused by a picornavirus (genus Aphthovirus) and characterized by vesicular eruptions in the mouth, tongue, hoofs, and udder; humans are rarely affected. SYN: aftosa.
- Forbes d. SYN: type 3 glycogenosis.
- Fordyce d. SYN: Fordyce spots, under spot.
- Forestier d. SYN: diffuse idiopathic skeletal hyperostosis.
- Fothergill d. 1. SYN: trigeminal neuralgia. 2. SYN: anginose scarlatina.
- Fournier d. infective gangrene involving the scrotum. SYN: Fournier gangrene, syphiloma of Fournier.
- fourth d. SYN: exanthema subitum.
- Fox-Fordyce d. a chronic pruritic eruption of dry papules and distended ruptured apocrine glands, seen mostly in women, with follicular hyperkeratosis of the nipples, axillae, and pubic and sternal regions. SYN: apocrine miliaria.
- Franklin d. SYN: γ-heavy-chain d..
- Freiberg d. osteonecrosis of second metatarsal head. SYN: Freiberg infarction.
- Friend d. mouse leukemia caused by the Friend leukemia virus, a member of the family Retroviridae.
- functional d. SYN: functional disorder.
- functional cardiovascular d. a euphemism for cardiovascular symptoms deemed to be psychogenic. More generally, sometimes used for abnormal cardiac function.
- fusospirochetal d. infection of the mouth and/or pharynx associated with fusiform bacilli and spirochetes, commonly part of the normal flora of the mouth. SEE ALSO: necrotizing ulcerative gingivitis.
- Gairdner d. attacks of cardiac distress accompanied by apprehension. SYN: angina pectoris sine dolore, angor pectoris (1).
- Gamna d. a form of chronic splenomegaly characterized by conspicuous thickening of the capsule and the presence of multiple, small, rustlike, brown foci (Gamna-Gandy bodies), which contain iron; this condition may be observed in fibrocongestive splenomegaly, sickle cell d., and some examples of hemochromatosis.
- Gandy-Nanta d. siderotic splenomegaly, probably the same as Gamna d..
- garapata d. tick fever occurring in Spain.
- Garré d. SYN: sclerosing osteitis.
- gastroesophageal reflux d. (GERD) a syndrome due to structural or functional incompetence of the lower esophageal sphincter, which permits retrograde flow of acidic gastric juice into the esophagus.Although the underlying abnormality in GERD is apparently inborn and irreversible, the incidence increases with age. In addition to reflux, most cases involve disordered gastric motility and prolonged gastric emptying time. Symptoms include recurring epigastric and retrosternal distress, usually described as heartburn, along with varying degrees of belching, nausea, gagging, cough, or hoarseness. GERD is increasingly recognized as a cause of throat irritation and chronic cough. The incidence of GERD among adults with asthma may be as high as 80%. The disorder is more common in men. The likelihood of symptomatic reflux is increased by obesity, pregnancy, cigarette smoking, diabetes mellitus, scleroderma, and other connective tissue diseases. Symptoms can be induced by recumbency, strenuous exercise, heavy lifting, smoking, eating large meals, or consuming alcohol, chocolate, fatty foods, and drugs such as theophylline, calcium channel blockers, and anticholinergic agents. Acid reflux can cause peptic esophagitis, ulcer formation, or esophageal stricture. Metaplastic changes in esophageal squamous epithelium, called Barrett's esophagus, can progress to carcinoma. Diagnosis is by history, esophageal pH monitoring, radiologic study showing reflux of swallowed barium, and endoscopy to identify ulceration or stricture and permit biopsy to rule out malignancy. Treatment includes avoidance of known causes and administration of antacids, H2 antagonists, prokinetic agents, and proton pump inhibitors.
- Gaucher d. a lysosomal storage disorder due to a deficiency of glucocerebrosidase resulting in accumulation of glucocerebroside; high incidence among persons of Ashkenazi Jewish descent; occurs most severely in infants, characterized by hepatosplenomegaly, hematologic abnormalities, bone lesions, neurological manifestations with ataxia, spastic paraplegia, seizures, and dementia, and presence of characteristic histiocytes (Gaucher cells) in the viscera; autosomal recessive inheritance, caused by mutation in the glucocerebrosidase A gene (GBA) on chromosome 1q. There are three main forms: type I, noncerebral juvenile [MIM*230800]; type II, cerebral juvenile [MIM*230900]; and type III, adult cerebral [MIM*231000]; the juvenile forms are most severe. SYN: cerebroside lipidosis.
- Gerhardt-Mitchell d. SYN: erythromelalgia.
- Gerlier d. SYN: vestibular neuronitis.
- gestational trophoblastic d. SYN: hydatidiform mole.
- Gierke d. SYN: type 1 glycogenosis.
- Gilbert d. SYN: familial nonhemolytic jaundice.
- Gilles de la Tourette d. SYN: Tourette syndrome.
- Glanzmann d. SYN: Glanzmann thrombasthenia.
- glycogen-storage d. SYN: glycogenosis.
- Goldflam d. SYN: myasthenia gravis.
- Gorham d. SYN: disappearing bone d..
- Gougerot and Blum d. SYN: pigmented purpuric lichenoid dermatosis.
- Gougerot-Sjögren d. SYN: Sjögren syndrome. [Sjögren, Henrik S.C.]
- graft versus host d. an incompatibility reaction (that may be fatal) in a subject (host) of low immunologic competence who has been the recipient of immunologically competent lymphoid tissue from a donor who is immunologically different from the recipient; the reaction, or d., is the result of action of the transplanted cells against those host tissues that possess an antigen not found in the donor. Seen most commonly following bone marrow transplantation, acute d. is seen after 7–30 days and chronic d. weeks to months after transplantation, affecting, principally, the gastrointestinal tract, liver, and skin. SYN: GVH d..
- Graves d. 1. toxic goiter characterized by diffuse hyperplasia of the thyroid gland, a form of hyperthyroidism; exophthalmos is a common, but not invariable, concomitant; 2. thyroid dysfunction and all or any of its clinical associations; 3. an organ-specific autoimmune d. of the thyroid gland. See thyrotoxicosis, Hashimoto thyroiditis, goiter, myxedema. SYN: Basedow d., ophthalmic hyperthyroidism, Parry d..
- Griesinger d. bilious typhoid of Griesinger, a severe form of louse-borne relapsing fever caused by Borrelia recurrentis and causing high fever, epistaxis, dyspnea, intense jaundice, purpura, and splenomegaly.
- Grover d. SYN: transient acantholytic dermatosis.
- GVH d. SYN: graft versus host d..
- Haff d. rhabdomyolysis resultant from an unidentified toxin contained in some fishes, including turbot and biffalo fish. [Haff, an arm of the Baltic Sea in East Prussia]
- Haglund d. an abnormal prominence of the posterior superior lateral aspect of the os calcis. SYN: Haglund deformity.
- Hailey-Hailey d. SYN: benign familial chronic pemphigus.
- Hallervorden-Spatz d. SYN: Hallervorden-Spatz syndrome.
- Hallopeau d. SYN: pemphigus vegetans (2).
- Hamman d. SYN: Hamman syndrome.
- Hammond d. SYN: athetosis.
- hand-foot-and-mouth d. an exanthematous eruption in small children usually consisting of small, pearl-gray vesicles of the fingers, toes, palms, and soles, accompanied by often painful vesicles and ulceration of the buccal mucous membrane and the tongue and by slight fever; the d. lasts 4–7 days, and is usually caused by coxsackie virus type A-16, but other types have been identified.
- Hand-Schüller-Christian d. the chronic disseminated form of Langerhans cell histiocytosis. The classic triad of signs consists of diabetes insipidus, exophthalmos, and bony lesions composed of histiocytes. SYN: Christian d. (1), Christian syndrome, normal cholesteremic xanthomatosis, Schüller d., Schüller syndrome.
- Hansen d. SYN: leprosy.
- Harada d. SYN: Harada syndrome.
- Hartnup d. [MIM*234500] an autosomal recessively inherited metabolic disorder characterized by aminoaciduria which is due to defective renal tubular transport of neutral α-amino acid s; there is increased urinary excretion of tryptophan derivatives caused by defective intestinal absorption and bacterial degradation of unabsorbed tryptophan in the gut; manifestations include pellagralike, light-sensitive skin rash with temporary cerebellar ataxia. SYN: Hartnup syndrome.
- Hashimoto d. SYN: Hashimoto thyroiditis.
- heavy chain d. a term used for a group of diseases, the paraproteinemias, characterized by production of homogeneous immunoglobulins or fragments, and associated with malignant disorders of the plasmacytic and lymphoid cell series. Three types have been recognized: γ-heavy-chain d., α-heavy-chain d., and μ-heavy-chain d.; each is diagnosed by the finding of the appropriate heavy-chain fragment in the serum, urine, or both.
- α-heavy-chain d. the most common form of heavy-chain d., characterized by a finding in the serum of a protein reactive with antisera to α-chains but not light chains; clinical features include diarrhea, steatorrhea, and severe malabsorption.
- γ-heavy-chain d. heavy-chain d. characterized by a finding in the serum and urine of a broad protein peak that is reactive with antisera to γ-chains and unreactive with antisera to light chains; common features include anemia, lymphocytosis, eosinophilia, thrombocytopenia, hyperuricemia, lymphadenopathy, and hepatosplenomegaly. SYN: Franklin d..
- μ-heavy-chain d. the rarest form of heavy-chain d., primarily seen in patients with long-standing chronic lymphatic leukemia; diagnosis is made on immunoelectrophoresis by finding a component reactive with antisera to μ-chains but not to light chains.
- Heck d. SYN: focal epithelial hyperplasia.
- Heerfordt d. SYN: uveoparotid fever.
- hemoglobin H d. hemoglobin H.
- hemolytic d. of newborn SYN: erythroblastosis fetalis.
- hemorrhagic d. of the newborn a syndrome characterized by spontaneous internal or external bleeding accompanied by hypoprothrombinemia, slightly decreased platelets, and markedly elevated bleeding and clotting times, usually occurring between the third and sixth days of life and effectively treated with vitamin K.
- herring-worm d. SYN: anisakiasis.
- Hers d. SYN: type 6 glycogenosis.
- Hirschsprung d. SYN: congenital megacolon.
- Hodgkin d. a d. marked by chronic enlargement of the lymph node s, often local at the onset and later generalized, together with enlargement of the spleen and often of the liver, no pronounced leukocytosis, and commonly anemia and continuous or remittent (Pel-Ebstein) fever; considered to be a malignant neoplasm of lymphoid cells of uncertain origin (Reed-Sternberg cells), associated with inflammatory infiltration of lymphocytes and eosinophilic leukocytes and fibrosis; can be classified into lymphocytic predominant, nodular sclerosing, mixed cellularity, and lymphocytic depletion type; a similar d. occurs in domestic cats. SYN: Hodgkin lymphoma, lymphadenoma (2).
- Hodgson d. dilation of the arch of the aorta associated with insufficiency of the aortic valve.
- holoendemic d. (hol′o-en-dem′ik) a d. for which a high prevalent level of infection begins early in life and affects most or all of the child population, leading to a state of equilibrium, such that the adult population shows evidence of the d. much less frequently than do the children.
- Huntington d. [MIM*143100] SYN: Huntington chorea.
- Hurler d. SYN: Hurler syndrome.
- Hurst d. SYN: acute necrotizing hemorrhagic encephalomyelitis.
- Hutchinson-Gilford d. SYN: progeria.
- hyaline membrane d. of the newborn a d. seen especially in premature neonates with respiratory distress; characterized postmortem by atelectasis and alveolar ducts lined by an eosinophilic membrane; also associated with reduced amounts of lung surfactant. SYN: hyaline membrane syndrome, respiratory distress syndrome of the newborn.
- hydatid d. infection of humans, sheep, and most other herbivorous and omnivorous mammals with larvae of the tapeworm Echinococcus.
- hyperendemic d. a d. that is constantly present at a high incidence and/or prevalence rate and affects all age groups equally.
- Iceland d. SYN: epidemic neuromyasthenia.
- I-cell d. SYN: mucolipidosis II.
- idiopathic d. a d. of unknown cause or mechanism.
- immune complex d. an immunologic category of diseases evoked by the deposition of antigen-antibody in the microvasculature. Complement is frequently involved and the breakdown products of complement attract polymorphonuclear leukocytes to the site of deposition. Damage to tissue is frequently caused by the process of “frustrated” phagocytosis by polymorphonuclear cells. Vasculitis or nephritis is common. Arthus phenomenon and serum sickness are classic examples, but many other disorders, including most of the connective tissue diseases, may belong in this immunologic category; immune complex diseases can also occur during a variety of diseases of known etiology, such as subacute bacterial endocarditis. SEE ALSO: autoimmune d.. SYN: immune complex disorder, type III hypersensitivity reaction.
- immunoproliferative small intestinal d. diffuse lymphoplasmacytic infiltration of the proximal small bowel mucosa and mesenteric lymph node s resulting in diarrhea, weight loss, abdominal pain, and clubbing of fingers and toes; seen in poor people in developing countries. SYN: Mediterranean lymphoma.
- inborn lysosomal d. inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler syndrome or a lipopolysaccharide as in Gaucher d..
- inclusion cell d. SYN: mucolipidosis II.
- industrial d. a morbid condition resulting from exposure to an agent discharged by a commercial enterprise into the environment. Cf.:occupational d..
- infantile celiac d. gluten-sensitive enteropathy appearing in infancy, often before the age of 9 months and characterized by acute onset, diarrhea, abdominal pain, and “failure to thrive.”
- infectious d., infective d. a d. resulting from the presence and activity of a microbial agent.
- intercurrent d. a new d. occurring during the course of another d., not related to the primary d. process.
- interstitial d. a d. occurring chiefly in the connective-tissue framework of an organ, the parenchyma suffering secondarily.
- iron-storage d. the storage of excess iron in the parenchyma of many organs, as in idiopathic hemochromatosis or transfusion hemosiderosis.
- island d. SYN: tsutsugamushi d..
- Itai-Itai d. a form of cadmium poisoning described in Japanese people, characterized by renal tubular dysfunction, osteomalacia, pseudofractures, and anemia, caused by ingestion of contaminated shellfish or other sources containing cadmium.
- Jaffe-Lichtenstein d. obsolete term for fibrous dysplasia of bone.
- Jansky-Bielschowsky d. cerebral sphingolipidosis, early juvenile type.
- Jensen d. SYN: retinochoroiditis juxtapapillaris.
- jumping d., jumper d. one of the pathologic startle syndromes found in isolated parts of the world, characterized by greatly exaggerated responses, such as jumping, flinging the arms and yelling, to minimal stimuli. SYN: jumping Frenchmen of Maine d., jumper d. of Maine.
- jumping Frenchmen of Maine d., jumper d. of Maine SYN: jumping d..
- Jüngling d. SYN: osteitis tuberculosa multiplex cystica.
- Kashin-Bek d. a form of generalized osteoarthrosis limited to areas of Asia, including the Urov river; believed to result from ingestion of wheat infected with the fungus Fusarium sporotrichiella.
- Katayama d. acute early egg-laying phase of schistosomiasis, a toxemic syndrome in heavy primary infections, rarely seen in chronic cases. It is considered a form of immune complex d. or serum sickness–like condition. Described for schistosomiasis japonica, but observed with other forms as well. SYN: Katayama fever. [town in Japan where the d. is common]
- Kawasaki d. a systemic vasculitis of unknown origin that occurs primarily in children under 8 years of age. Symptoms include a fever lasting more than 5 days, polymorphic rash, erythematous, dry, cracking lips; conjunctival injection, swelling of the hands and feet, irritability, adenopathy, and a perineal desquamative rash. Approximately 20% of untreated patients may develop coronary artery aneurysms. As the child recovers from the illness, thrombocytosis and peeling of the fingertips occurs. SYN: Kawasaki syndrome, mucocutaneous lymph node syndrome.
- Kennedy d. an X-linked recessive disorder characterized by progressive spinal and bulbar muscular atrophy; associated features include distal degeneration of sensory axons, and signs of endocrine dysfunction, including diabetes mellitus, gynecomastia, and testicular atrophy. SYN: X-linked recessive bulbospinal neuronopathy.
- Kienböck d. osteonecrosis of the lunate bone resulting from unknown etiolgy, although can occur after trauma. SYN: lunatomalacia.
- Kikuchi d. necrotizing lymphadenitis of unknown etiology, most often encountered in young women in Japan but also in other parts of the world; lymph node enlargement, associated with fever, subsides spontaneously.
- Kimmelstiel-Wilson d. SYN: Kimmelstiel-Wilson syndrome.
- Kimura d. SYN: angiolymphoid hyperplasia with eosinophilia.
- kinky-hair d., kinky hair d. [MIM*309400] an inborn error of copper metabolism with onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq. SYN: Menkes syndrome, trichopoliodystrophy.
- Köhler d. osteonecrosis of the tarsal navicular bone or of the patella.
- kok d. SYN: hyperekplexia.
- Krabbe d. SYN: globoid cell leukodystrophy.
- Kufs d. cerebral sphingolipidosis, adult type.
- Kugelberg-Welander d. SYN: spinal muscular atrophy, type III.
- Kyasanur Forest d. a d. occurring among forest workers in the Kyasanur Forest and in Mysore, India, caused by a Flavivirus in the family Flaviviridae transmitted chiefly by Haemaphysalis spinigera, although other ticks have been implicated as well; symptoms include fever, headache, back and limb pains, diarrhea, and intestinal bleeding; central nervous system symptoms do not occur.
- Kyrle d. SYN: hyperkeratosis follicularis et parafollicularis.
- Lafora d. SYN: Lafora body d..
- Lafora body d. [MIM*254780] a form of progressive myoclonus epilepsy beginning from age 6–19; characterized by generalized tonic-clonic seizures, resting and action myoclonus, ataxia, dementia, and classic EEG findings, including polyspike and wave discharges; basophilic cytoplasmic inclusion bodies present in portions of the brain, the liver, and skin, as well as the duct cells of the sweat glands. Death usually occurs within 10 years of onset; autosomal recessive inheritance, caused by mutation in the progressive myoclonic epilepsy 2 gene (EPM2A) on chromosome 6q. SYN: Lafora d..
- Lane d. SYN: erythema palmare hereditarium.
- L-chain d. SYN: Bence Jones myeloma.
- Legg-Calvé-Perthes d., Legg-Perthes d., Legg d. epiphysial osteonecrosis of the upper end of the femur. SYN: Calvé-Perthes d., coxa plana, osteochondritis deformans juvenilis, Perthes d., pseudocoxalgia, quiet hip d..
- Legionnaires d. an acute infectious d., caused by Legionella pneumophila, with prodromal influenzalike symptoms and a rapidly rising high fever, followed by severe pneumonia and production of usually nonpurulent sputum, and sometimes mental confusion, hepatic fatty changes, and renal tubular degeneration. It has a high case-fatality rate; acquired from contaminated water, usually by aerosolization rather than being transmitted from person-to-person. SYN: legionellosis. [American Legion convention, 1976, at which many delegates were so affected]
- Leigh d. [MIM*256000] subacute encephalomyelopathy affecting infants, causing seizures, spasticity, optic atrophy, and dementia; the genetic causation is heterogeneous; may be associated with deficiency of cytochrome c oxidase or NADH-ubiquinone oxidoreductase or other enzymes involved in energy metabolism. Autosomal recessive, X-linked recessive and mitochondrial inheritance have been described; mutations have been identified in the surfeit-1 gene (SURF) [MIM*185620] on chromosome 9, in a mtDNA-encoded subunit of ATP synthase [MIM*516060], in the X-linked E1-alpha subunit of pyruvate dehydrogenase [MIM*312170], and in several subunits of mitochondrial complex I [MIM*161015 and MIM*620141]. SYN: necrotizing encephalomyelopathy, necrotizing encephalopathy.
- Leiner d. SYN: erythroderma desquamativum.
- Lenègre d. SYN: Lenègre syndrome.
- lenticular progressive d. SYN: WILSON DISEASE51.
- Leri-Weill d. SYN: dyschondrosteosis.
- Letterer-Siwe d. the acute disseminated form of Langerhans cell histiocytosis. SYN: nonlipid histiocytosis.
- Lev d. SYN: Lev syndrome.
- Lindau d. SYN: von Hippel-Lindau syndrome.
- linear IgA bullous d. in children SYN: chronic bullous dermatosis of childhood.
- Little d. SYN: spastic diplegia.
- Lobo d. SYN: lobomycosis.
- Löffler d. SYN: Löffler endocarditis.
- Lorain d. SYN: idiopathic infantilism.
- Lou Gehrig d. SYN: amyotrophic lateral sclerosis.
- Luft d. [MIM*238800] a metabolic d. due to relative uncoupling of phosphorylation in skeletal muscle causing myopathy and general hypermetabolism; a mitochondial myopathy.
- Lutz-Splendore-Almeida d. SYN: paracoccidioidomycosis.
- Lyell d. SYN: staphylococcal scalded skin syndrome.
- Lyme d. a subacute inflammatory disorder caused by infection with Borrelia burgdorferi, a nonpyogenic spirochete transmitted by Ixodes scapularis, the deer tick, in the eastern U.S. and I. pacificus, the western black-legged tick, in the western U.S.; the characteristic skin lesion, erythema chronicum migrans, is usually preceded or accompanied by fever, malaise, fatigue, headache, and stiff neck; neurologic, cardiac, or articular manifestations may occur weeks to months later. Tick nymphs are thought to be responsible for about 90% of transmission to human beings. Nymphs and larvae feed especially on the white-footed mouse, Peromyscus leucopus, while the preferred host of adults is the deer. Infected reservoir animals and ticks do not become ill. Residual articular or neurologic symptoms, which may persist for months or years after the initial infection, probably represent an immune response to the organism. Variations in clinical features or severity from one patient to another may be due to inborn variations in immune response, perhaps linked to the human lymphocytic antigen system. SYN: Lyme borreliosis. [Lyme, CT, where first observed] Because of media coverage, Lyme d. has a higher profile than its occurrence warrants. Fewer than 18,000 cases are confirmed annually in the U.S. It is generally a benign, self-limited d., even when untreated. Antibody studies in endemic areas suggest that as many as 50% of persons who contract the infection never show symptoms. The case fatality rate is virtually zero. The diagnosis is essentially clinical. Serologic tests for antibody to B. burgdorferi are notoriously poor in both sensitivity and specificity. In nonendemic areas, false-positive test results statistically outnumber true positives. IgM antibody appears and peaks relatively late, so that one-half of patients are seronegative during the first month following appearance of the rash. Antibiotic treatment administered early can alter or prevent the expected acute immune response. IgG antibody persists for months or years after infection and hence affords no help in diagnosing acute d.. Given the nonspecific and variable clinical picture and the unreliability of laboratory diagnostic measures, it is inevitable that many cases of Lyme d. are missed, and that, conversely, the diagnosis is often wrongly made. A study assessing the costs of misdiagnosis of Lyme d. found that 60% of patients referred to a Lyme d. clinic had never had the d. and another 19% had a history of infection but no current d.. The drug of choice is doxycycline administered orally for several weeks. Amoxicillin is the standard alternative for children and pregnant patients. Recovery does not confer immunity to future attacks; in fact, in highly endemic areas, the reinfection rate may be as high as 20%. Infectious d. authorities do not recommend antibiotic prophylaxis after a tick bite, even in highly endemic areas, nor do they countenance treatment of asymptomatic persons who have serologic evidence of past infection. A vaccine consisting of outer surface protein A (OspA) of B. burgdorferi synthesized by a nonvirulent strain of recombinant Escherichia coli was released in 1998. Antibody induced by the vaccine enters a feeding tick and binds any spirochetes present, preventing their mobilization. Three doses of the vaccine administered over a 12-month period confer about 80% protection against Lyme d.. The vaccine is not approved for persons under age 15 and is recommended only for those living or working in highly endemic areas.
- lysosomal d. a d. due to inadequate functioning of a lysosomal enzyme; most such diseases are associated with a storage d..
- Machado-Joseph d. [MIM*109150] a rare form of hereditary ataxia, characterized by onset in early adult life of progressive, spinocerebellar and extrapyramidal d. with external ophthalmoplegia, rigidity dystonia symptoms, and, often, peripheral amyotrophy; found predominantly in people of Azorean ancestry; autosomal dominant inheritance, caused by a trinucleotide repeat expansion mutation in the Machado-Joseph gene (MJD1) on 14q. SYN: Azorean d., Portuguese-Azorean d.. [Surnames of two families studied in major descriptions of the d..]
- mad cow d. SYN: bovine spongiform encephalopathy.
- Madelung d. SYN: multiple symmetric lipomatosis.
- Manson d. SYN: schistosomiasis mansoni.
- maple bark d. hypersensitivity pneumonitis caused by spores of Cryptostroma corticale growing under the bark of stacked maple logs.
- maple syrup urine d. [MIM*248600] an inborn error of metabolism caused by defective oxidative decarboxylation of α-keto acids of leucine, isoleucine, and valine; these branched-chain amino acid s are present in the blood and urine in high concentrations; manifestations of d. include feeding difficulties, physical and mental retardation, and a urine odor similar to that of maple syrup; neonatal death is common. Autosomal recessive inheritance, caused by mutation in the E1, E2 or E3 subunit of the branched-chain α-keto acid dehydrogenase gene (BCKDH) on 19q. There are various forms differentiated by the subunit of BCKDH mutated. SYN: branched chain ketoaciduria, branched chain ketonuria, ketoacidemia.
- marble bone d. SYN: osteopetrosis.
- Marburg d. infection with an unusual rhabdovirus composed of RNA and lipid, tentatively assigned to the family of Filoviridae. Virus is "pantropic" and affects most organ systems.The d. is characterized by a prominent rash and hemorrhages in many organs and is often fatal. First seen among laboratory workers in Marburg, Germany, exposed to African green monkeys. Some person-to-person spread has been observed. Attempts to isolate virus should be done only in high-security laboratories. SYN: Marburg virus d..
- Marburg virus d. SYN: Marburg d..
- Marchiafava-Bignami d. a disorder recognized primarily by its pathological features, consisting of demyelination of the corpus callosum and cortical laminar necrosis involving the frontal and temporal lobes. Occurs predominantly in chronic alcoholics, particularly wine drinkers.
- Marfan d. SYN: Marfan syndrome.
- margarine d. erythema multiforme caused by an emulsifying agent used in the manufacture of margarine.
- Marie-Strümpell d. SYN: ankylosing spondylitis.
- Martin d. a periosteoarthritis of the foot from excessive walking.
- McArdle d. SYN: type 5 glycogenosis.
- McArdle-Schmid-Pearson d. SYN: type 5 glycogenosis.
- mechanobullous d. SYN: epidermolysis bullosa. [G. mechane, machine, + bullous]
- Meige d. [MIM*153200] autosomal dominant lymphedema with onset at about the age of puberty.
- Ménétrier d. gastric mucosal hyperplasia, either mucoid or glandular; the latter type may be associated with the Zollinger-Ellison syndrome. SYN: giant hypertrophy of gastric mucosa, hypertrophic gastritis, Ménétrier syndrome.
- Ménière d. an affection characterized clinically by vertigo, nausea, vomiting, tinnitus, and progressive hearing loss due to hydrops of the endolymphatic duct. SYN: endolymphatic hydrops, Ménière syndrome.
- mental d. mental illness.
- Merzbacher-Pelizaeus d. SYN: Pelizaeus-Merzbacher d..
- metabolic d. generic term for d. caused by an abnormal metabolic process. It can be congenital, due to inherited enzyme abnormality, or acquired, due to d. of an endocrine organ or failure of function of a metabolic important organ such as the liver.
- Meyenburg d. SYN: relapsing polychondritis.
- Meyer-Betz d. SYN: myoglobinuria.
- microcystic d. of renal medulla SYN: cystic d. of renal medulla.
- micrometastatic d. the condition of a patient who has had all clinically evident cancer removed, but who may be expected to have a recurrence from metastases that are too small to be apparent.
- microvillus inclusion d. a condition that begins at birth with persistent watery diarrhea and life-threatening malabsorption associated with villus atrophy and crypt hypoplasia in the small bowel; electron microscopy reveals microvillus inclusions in enterocytes. SYN: congenital microvillus atrophy.
- Mikulicz d. benign swelling of the lacrimal, and usually also of the salivary glands in consequence of an infiltration of and replacement of the normal gland structure by lymphoid tissue. SEE ALSO: Mikulicz syndrome, Sjögren syndrome.
- Minamata d. a neurologic disorder caused by methyl mercury intoxication; first described in the inhabitants of Minamata Bay, Japan, resulting from their eating fish contaminated with mercury industrial waste. Characterized by peripheral sensory loss, tremors, dysarthria, ataxia, and both hearing and visual loss.
- miner's d. 1. SYN: ancylostomiasis, miner's nystagmus.
- minimal-change d. SYN: lipoid nephrosis.
- mixed connective-tissue d. d. with overlapping features of various systemic connective-tissue diseases and with serum antibodies to nuclear ribonucleoprotein.
- molecular d. a d. in which the manifestations are due to alterations in molecular structure and function.
- Mondor d. thrombophlebitis of the thoracoepigastric vein of the breast and chest wall.
- Monge d. SYN: chronic mountain sickness.
- Morgagni d. SYN: Adams-Stokes syndrome.
- Morquio d. SYN: Morquio syndrome.
- Morquio-Ullrich d. SYN: Morquio syndrome.
- motor neuron d. (MND) a general term including progressive spinal muscular atrophy (infantile, juvenile, and adult), amyotrophic lateral sclerosis, progressive bulbar paralysis, and primary lateral sclerosis; frequently a familial d.. SYN: motor system d..
- motor system d. SYN: motor neuron d..
- mountain d. a term that can mean acute altitude sickness; also used for chronic d. characterized by low oxygen saturation of hemoglobin, due to low partial pressure of oxygen in inspired air plus alveolar hypoventilation that develops in some individuals, especially older people. Polycythemia leads to florid skin color but cyanosis appears on mild exertion, along with dyspnea, fatigue, headache, and mental torpor. A person so afflicted returns to normal shortly after return to lower altitude.
- moyamoya d. a cerebrovascular disorder occurring predominantly in the Japanese, in which the vessels of the base of the brain become occluded and revascularized with a fine network of vessels; it occurs commonly in young children and is manifested by convulsions, hemiplegia, mental retardation, and subarachnoid hemorrhage; the diagnosis is made by the angiographic picture. [Jap. addlebrained]
- Mucha-Habermann d. SYN: pityriasis lichenoides et varioliformis acuta.
- multicore d. nonprogressive congenital myopathy characterized by weakness of proximal muscles, multifocal degeneration of the muscle fibers, and eccentric areas of decreased or absent oxidative enzyme activity in muscles.
- Neumann d. SYN: pemphigus vegetans (1).
- neutral lipid storage d. SYN: Dorfman-Chanarin syndrome.
- Newcastle d. an acute febrile, and contagious d. of fowls resembling fowl plague, caused by a Paramyxovirus (Newcastle d. virus) and characterized by high infectivity and respiratory and nervous symptoms; it is readily transmissible to humans, in whom it causes a severe but transient conjunctivitis. SYN: Ranikhet d.. [Newcastle–upon–Tyne, England, where first reported]
- Nicolas-Favre d. SYN: venereal lymphogranuloma.
- Niemann d. SYN: Niemann-Pick d..
- Niemann-Pick d. [MIM*257200] lipidosis with accumulation of sphingomyelin in histiocytes in the liver, spleen, lymph node s, and bone marrow due to a deficiency of sphingomyelinase; associated with hepatosplenomegaly, physical, and mental retardation and neurologic manifestations; macular cherry-red spots may occur at a later stage; occurs most commonly in Ashkenazi Jewish infants and leads to early death; a more benign form may occur in adults. There are several variants: Type A, the classic infantile form; Type B, the visceral form; Type C, the juvenile form; Type D, the Nova Scotia variant; and Type E, the adult form; all are of autosomal recessive inheritance with Types A and B caused by mutation in the acid sphingomyelinase gene (SMPD) on chromosome 11p. SYN: Niemann d., sphingomyelin lipidosis.
- Niemann-Pick C1 d. [MIM*257220] a rare inherited lipid storage disorder, affecting viscera and central nervous system, inherited as an autosomal recessive. There are two types of d., with same clinical manifestations and biochemical abnormalities, resulting from abnormalities in two separate genes, NPC-1, the major locus, and NPC-2, the minor locus; then two types have identical clinical and biochemical phenotypes. Cells from NPC patients are defective in the esterification and release of cholesterol from lysosomes; lysosomal sequestration of LDL-derived cholesterol, including delayed down-regulation of LDL uptake and de novo synthesis occur.
- nil d. SYN: lipoid nephrosis.
- nodular d. esophagostomiasis in herbivores and primates, characterized by nodules in the wall of the large intestine, cecum, and occasionally, the ileum; the nodules are filled with caseous material and result from host response to encystment of the larvae of Oesophagostomum species.
- Norrie d. [MIM*310600] congenital bilateral masses of tissue arising from the retina or vitreous and resembling glioma (pseudoglioma), usually with atrophy of iris and development of cataract; associated mental retardation and deafness; X-linked recessive inheritance, caused by mutation in the Norrie d. gene (NDP) on Xp.
- notifiable d. a d. that, by statutory requirements, must be reported to the public health or veterinary authorities when the diagnosis is made because of its importance to human or animal health. SYN: reportable d..
- oasthouse urine d. [MIM*250900] an autosomal recessively inherited metabolic defect in the absorption of methionine which is converted by intestinal bacteria to α-hydroxybutyric acid; characterized by diarrhea, tachypnea, and marked urinary excretion of α-hydroxybutyric acid (causing an odor like that of an oasthouse). [oast, kiln for drying hops, malt, or tobacco]
- occupational d. a morbid condition resulting from exposure to an agent during the usual performance of one's occupation. Cf.:industrial d..
- Ofuji d. SYN: eosinophilic pustular folliculitis.
- Oguchi d. [MIM*258100] a rare congenital nonprogressive night blindness with diffuse yellow or gray coloration of fundus; after 2 or 3 hours in total darkness, fundus resumes normal color; autosomal recessive inheritance, caused by mutation in either the arrestin gene (SAG) on 2q or the rhodopsin kinase gene (RHOK) on 13q.
- Oppenheim d. SYN: amyotonia congenita.
- organic d. a d. in which there are anatomic or pathophysiologic changes in some bodily tissue or organ, in contrast to a functional disorder; particularly one of psychogenic origin.
- Ormond d. SYN: retroperitoneal fibrosis.
- orphan d. a d. for which no treatment has been developed because of its rarity (affecting no more than 200,000 persons in the U.S.). SEE ALSO: orphan products, under product.
- Osgood-Schlatter d. inflammation of the growth center (apophysis) that forms the tibial tubercle. SYN: apophysitis tibialis adolescentium, Schlatter d., Schlatter-Osgood d..
- Osler d. SYN: polycythemia vera.
- Osler-Vaquez d. SYN: polycythemia vera.
- Otto d. a d. characterized by an inward bulging of the acetabulum into the pelvic cavity, resulting in protrusion of the femoral head; found in association with arthritis of the hip joints, usually rheumatoid arthritis. SYN: Otto pelvis, protrusio acetabuli.
- Owren d. [MIM*227400] a congenital deficiency of factor V, resulting in prolongation of prothrombin time; bleeding and clotting times are consistently prolonged; autosomal recessive inheritance caused by mutation in the F5 gene on chromosome 1q.
- Paas d. a familial skeletal deformation marked by coxa valga, double patella, shortening of the middle and terminal phalanges of fingers and toes, deformities of the elbows, scoliosis, and spondylitis deformans of the lumbar vertebrae; all these manifestations may be unilateral or bilateral.
- Paget d. 1. a generalized skeletal d., frequently familial, of older persons in which bone resorption and formation are both increased, leading to thickening and softening of bones ( e.g., the skull), and bending of weight-bearing bones; SYN: osteitis deformans. 2. a d. of elderly women, characterized by an infiltrated, somewhat eczematous lesion surrounding and involving the nipple and areola, and associated with subjacent intraductal cancer of the breast and infiltration of the lower epidermis by malignant cells; 3. SYN: extramammary Paget d..
- Panner d. epiphysial osteonecrosis of the capitellum of the humerus. SYN: little league elbow.
- paper mill worker's d. extrinsic allergic alveolitis caused by moldy wood pulp containing spores of Alternaria fungi.
- parasitic d. a d. due to the presence and vital activity of a parasite, or as a reaction to a parasite.
- Parkinson d. SYN: parkinsonism (1).
- Parrot d. 1. pseudoparalysis in infants, due to syphilitic osteochondritis; 2. SYN: marasmus. 3. SYN: psittacosis.
- Parry d. SYN: Graves d..
- pearl-worker's d. inflammatory hypertrophy of the bones affecting grinders of mother-of-pearl.
- Pel-Ebstein d. SYN: Pel-Ebstein fever.
- Pelizaeus-Merzbacher d. [MIM*311601, *312080, *260600] a sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1, classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance caused by mutation in the proteolipid protein gene (PLP) on Xq; there is an autosomal recessive form as well; type 2, contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3, transitional, with death in the first decade; type 4, adult form associated with involuntary movements, ataxia and hyperreflexia, but without nystagmus; autosomal dominant inheritance [MIM*169500]; type 5, variant forms. Cockayne is sometimes included as a sixth form. SYN: Merzbacher-Pelizaeus d..
- Pellegrini d. a calcific density in the medial collateral ligament and/or bony growth on the medial aspect of the medial condyle of the femur. SYN: Pellegrini-Stieda d..
- Pellegrini-Stieda d. SYN: Pellegrini d..
- pelvic inflammatory d. (PID) acute or chronic suppurative inflammation of female pelvic structures (endometrium, uterine tubes, pelvic peritoneum) due to infection by Neisseria gonorrhoeae, Chlamydia trachomatis, or other organisms, typically a complication of sexually transmitted infection of the lower genital tract, may be precipitated by menstruation, parturition, or surgical procedures including abortion; complications include tubo-ovarian abscess, tubal stenosis with resulting infertility or sterility and heightened risk of ectopic pregnancy, and peritoneal adhesions.
- periodic d. any condition or d. in which episodes tend to recur at regular intervals; many such cases are manifestations of familial Mediterranean fever; the cause of the periodicity is usually unknown.
- Perthes d. SYN: Legg-Calvé-Perthes d..
- Pette-Döring d. SYN: nodular panencephalitis.
- Peyronie d. a d. in which plaques or strands of dense fibrous tissue surrounding the corpus cavernosum of the penis cause penile bending and pain on erection; sometimes associated with Dupuytren contracture. SYN: penile fibromatosis, van Buren d..
- Pick d. progressive circumscribed cerebral atrophy; a rare type of cerebrodegenerative disorder manifested primarily as dementia, in which there is striking atrophy of portions of the frontal and temporal lobes. SYN: Pick syndrome. [F. Pick]
- pink d. SYN: acrodynia (2).
- Plummer d. eponym sometimes applied to hyperthyroidism resulting from a nodular toxic goiter, usually not accompanied by exophthalmos.
- polycystic d. of kidneys SYN: polycystic kidney.
- polycystic liver d. SYN: polycystic liver.
- Pompe d. SYN: type 2 glycogenosis.
- Portuguese-Azorean d. SYN: Machado-Joseph d..
- posttransplant lymphoproliferative d. a complication of organ transplantation in children; characterized by a mononucleosislike syndrome, tonsillar enlargement, and Epstein-Barr virus seroconversion.
- Pott d. SYN: tuberculous spondylitis.
- Potter d. SYN: Potter facies.
- poultry handler's d. extrinsic allergic alveolitis similar to bird-breeder's lung, caused by inhalation of particulate emanations from domesticated fowl such as chickens and turkeys.
- primary d. a d. that arises spontaneously and is not associated with or caused by a previous d., injury, or event, but which may lead to a secondary d..
- Pringle d. SYN: adenoma sebaceum.
- pseudo-Hurler d. SYN: infantile, generalized GM1 gangliosidosis.
- pulseless d. SYN: Takayasu arteritis.
- Purtscher d. SYN: Purtscher retinopathy.
- quiet hip d. SYN: Legg-Calvé-Perthes d..
- ragpicker's d. SYN: pulmonary anthrax.
- ragsorter's d. SYN: pulmonary anthrax.
- Ranikhet d. SYN: Newcastle d.. [Ranikhet, town in northern India]
- rat-bite d. SYN: rat-bite fever.
- Rayer d. SYN: biliary xanthomatosis.
- Raynaud d. SYN: Raynaud syndrome.
- reactive airway d. SYN: asthma.
- Recklinghausen d. of bone SYN: osteitis fibrosa cystica.
- Refsum d. [MIM*266500] a rare degenerative disorder due to a deficiency of phytanic acid α-hydroxylase; clinically characterized by retinitis pigmentosa, ichthyosis, demyelinating polyneuropathy, deafness, and cerebellar signs; autosomal recessive inheritance caused by mutation in the gene encoding phytanoyl-CoA hydroxylase (PAHX or PAYH) on chromosome 10p. Infantile Refsum d. [MIM*266510] is an impaired peroxisomal function with accumulation of phytanic acid, pipecolic acid; autosomal recessive inheritance, caused by mutation in the PEX 1 gene on 7q. SYN: heredopathia atactica polyneuritiformis, Refsum syndrome.
- Reiter d. SYN: Reiter syndrome.
- reportable d. SYN: notifiable d..
- rhesus d. sensitization of the mother during pregnancy to Rh factor in fetal blood, leading to erythroblastosis fetalis.
- rheumatic heart d. d. of the heart resulting from rheumatic fever, chiefly manifested by abnormalities of the valves.
- rheumatoid d. rheumatoid arthritis, referring particularly to nonarticular lesions such as subcutaneous nodules.
- Ribas-Torres d. a mild form of smallpox. SEE ALSO: variola minor.
- rice d. beriberi, the original outbreaks of which were caused by feeding people rice from which the husks had been removed (polished rice), decreasing the vitamin B1 content of the rice.
- Riedel d. SYN: Riedel thyroiditis.
- Riga-Fede d. ulceration of the lingual frenum in teething infants, related to abrasion of the tissue against the new central incisors.
- Roger d. a congenital cardiac anomaly consisting of a small, isolated, asymptomatic defect of the interventricular septum, often with a loud murmur and definite thrill. SYN: maladie de Roger.
- Rokitansky d. 1. SYN: acute massive liver necrosis. 2. SYN: Chiari syndrome.
- Romberg d. SYN: facial hemiatrophy.
- Rosai-Dorfman d. SYN: sinus histiocytosis with massive lymphadenopathy.
- Rougnon-Heberden d. SYN: angina pectoris.
- Roussy-Lévy d. [MIM*180800] dominantly inherited disorder consisting of a motor-sensory demyelinating polyneuropathy and a coexisting essential tremor. SYN: Roussy-Lévy syndrome.
- runt d. a graft versus host reaction in mice first observed following intravenous injection of allogeneic spleen cells into newborn animals. SYN: wasting d..
- salivary gland d. disorder of salivary glands; i.e., Sjögren syndrome.
- Salla d. (sal′ya) an autosomal recessive disorder in which there is a defect in the transport of free sialic acid across lysosomal membranes.
- Sandhoff d. [MIM*268800] an infantile form of GM2 gangliosidosis characterized by a defect in the production of hexosaminidases A and B; it resembles Tay-Sachs d., but occurs predominantly (if not entirely) in non-Jewish children; accumulation of glucoside and ganglioside Gm2, caused by mutation in hexoaminidase B gene (HEX B) on chromosome 5q.
- sandworm d. an inflammatory eruption on the inner side of the sole, observed in certain parts of Australia, marked by a patch of erythema spreading in spirals, and disappearing spontaneously; probably a form of creeping eruption similar to larva migrans.
- San Joaquin Valley d. SYN: primary coccidioidomycosis.
- Scheuermann d. epiphysial osteonecrosis of adjacent vertebral bodies in the thoracic spine. SYN: adolescent round back, juvenile kyphosis, osteochondritis deformans juvenilis dorsi.
- Schilder d. term used to describe at least two separate disorders described by Schilder : 1) Diffuse sclerosis or encephalitis periaxialis diffusa; a nonfamilial disorder affecting primarily children and young adults and characterized by progressive dementia, visual disturbances, deafness, pseudobulbar palsy, and hemiplegia or quadriplegia. Most patients die within a few years of onset; pathologically, there is a large, asymmetric area of myelin destruction, sometimes involving an entire cerebral hemisphere, and typically with extension across the corpus callosum. 2) The leukodystrophies. SYN: encephalitis periaxialis diffusa.
- Schindler d. (shind′ler) an autosomal recessive disorder with deficient activity of α-N-acetylgalactosaminidase resulting in accumulation of glycoproteins and other substrates that are deposited in terminal axons, primarily in gray matter.
- Schlatter d., Schlatter-Osgood d. SYN: Osgood-Schlatter d..
- Scholz d. former eponym for the juvenile form of metachromatic leukodystrophy.
- Schüller d. SYN: Hand-Schüller-Christian d..
- Schwartz-Jampel d. SYN: myotonic chondrodystrophy.
- sclerocystic d. of the ovary SYN: polycystic ovary syndrome.
- sea-blue histiocyte d. [MIM*269600] splenomegaly and mild thrombocytopenia, with histiocytes in the bone marrow which contain cytoplasmic granules that stain bright blue; sometimes familial; perhaps a lipidosis; autosomal recessive inheritance.
- secondary d. 1. a d. that follows and results from an earlier d., injury, or event; 2. a wasting disorder that follows successful transplantation of bone marrow into a lethally irradiated host; frequently severe and usually associated with fever, anorexia, diarrhea, dermatitis, and desquamation. SEE ALSO: graft versus host d..
- self-limited d. a d. process that resolves spontaneously with or without specific treatment.
- Senear-Usher d. SYN: pemphigus erythematosus.
- serum d. SYN: serum sickness.
- Sever d. an osteochondrosis of the heel, probably secondary to microfractures in the bone where the Achilles tendon attaches to the posterior calcaneus; an overuse injury and a common cause of heel pain in older children. SYN: calcaneal apophysitis.
- sexually transmitted d. (STD) venereal d..
- Shaver d. SYN: bauxite pneumoconiosis.
- shimamushi d. SYN: tsutsugamushi d..
- sickle cell d. SYN: sickle cell anemia.
- sickle cell C d. [MIM*141900] a d. resulting from abnormal sickle-shaped erythrocytes (containing hemoglobins C and S) which appear in response to a lowering of the partial pressure of oxygen; characterized by anemia, crises due to hemolysis or vascular occlusion, chronic leg ulcers and bone deformities, and infarcts of bone or of the spleen.
- sickle cell-thalassemia d. anemia clinically resembling sickle cell anemia, in which individuals are compound heterozygous for the sickle cell gene and a thalassemia gene; about 60–80% of hemoglobin is Hb S, up to 20% Hb F, and the remainder Hb A. SYN: microdrepanocytic anemia.
- silo-filler's d. a pulmonary lesion produced by oxides of nitrogen due to fresh silage; in its acute form it may lead to death from pulmonary edema or may go on to a subacute or chronic proliferative pulmonary d. sometimes leading to chronic pulmonary invalidism.
- Simmonds d. SYN: Sheehan syndrome.
- Simons d. SYN: progressive lipodystrophy.
- sixth d. SYN: exanthema subitum.
- Sjögren d. SYN: Sjögren syndrome.
- skinbound d. scleroderma (usually applied to extensive involvement).
- slow virus d. a d. that follows a slow, progressive course spanning months to years, frequently involving the central nervous system and ultimately leading to death; examples are visna and maedi of sheep, caused by viruses of the genus Lentivirus (family Retroviridae), and subacute sclerosing panencephalitis, apparently caused by the measles virus. Spongiform encephalopathies, including kuru of humans, scrapie of sheep, and transmissible encephalopathy of mink may also be classified under slow virus d. but are now considered to be prion diseases.
- Sneddon-Wilkinson d. SYN: subcorneal pustular dermatosis.
- specific d. a d. produced by the action of a special pathogenic microorganism.
- Spielmeyer-Sjögren d. cerebral sphingolipidosis, late juvenile type.
- Spielmeyer-Stock d. retinal atrophy in amaurotic familial idiocy.
- Spielmeyer-Vogt d. cerebral sphingolipidosis, late juvenile type. SYN: Vogt-Spielmeyer d..
- stable d. in oncology, less than 25% increase or less than 50% decrease in the size of all tumors.
- Stargardt d. [MIM*248200] fundus flavimaculatus initiated with atrophic macular lesions, caused by mutationin the ATP-binding cassette transporter, retina-specific gene (ABCR) on 1p.
- startle d. SYN: hyperekplexia.
- Steele-Richardson-Olszewski d. SYN: progressive supranuclear palsy.
- Steinert d. SYN: myotonic dystrophy.
- Still d. a form of juvenile chronic arthritis (formerly called juvenile rheumatoid arthritis) characterized by high fever and signs of systemic illness that can exist for weeks or months before the onset of arthritis.
- Stokes-Adams d. SYN: Adams-Stokes syndrome.
- stone-mason's d. SYN: silicosis.
- storage d. a generic term that includes any accumulation of a specific substance within tissues, generally because of congenital deficiency of an enzyme necessary for further metabolism of the substance; e.g., glycogen-storage diseases.
- Strümpell d. 1. SYN: spondylitis deformans. 2. SYN: acute epidemic leukoencephalitis.
- Strümpell-Marie d. SYN: ankylosing spondylitis.
- Sturge-Weber d. SYN: Sturge-Weber syndrome.
- Sulzberger-Garbe d. SYN: exudative discoid and lichenoid dermatitis.
- Sutton d. SYN: aphthae major, under aphtha. [R. L. Sutton, Jr.]
- Sweet d. SYN: acute febrile neutrophilic dermatosis.
- swineherd's d. a leptospirosis caused by a leptospira occurring in those who attend swine or who are occupied in the slaughtering or processing of pork, and characterized by aches and pains throughout the body, fever, headache, dizziness, and nausea.
- swine vesicular d. a contagious d. of swine caused by a porcine enterovirus of the family Picornaviridae, closely related to the human enterovirus Coxsackie B-5, and characterized by vesicular lesions and erosions of the epithelium of the mouth, nares, snout, and feet; human infections have been reported in laboratory workers.
- swollen belly d. a fatal d. of infants infected with Strongyloides fuelleborni kellyi; appears in localized areas of New Guinea. SYN: swollen belly syndrome.
- Sydenham d. SYN: Sydenham chorea.
- Sylvest d. SYN: epidemic pleurodynia.
- systemic autoimmune diseases a group of connective tissue diseases characterized by the presence of autoantibodies responsible for immunopathologically mediated tissue lesions; systemic lupus erythematosus is the prototype.
- systemic febrile diseases generic term for diseases characterized by fever.
- Takahara d. SYN: acatalasia.
- Takayasu d. SYN: Takayasu arteritis.
- Tangier d. SYN: analphalipoproteinemia. [an island in the Chesapeake Bay, home of the family of first cases described]
- Taussig-Bing d. SYN: Taussig-Bing syndrome.
- Tay-Sachs d. a lysosomal storage d., resulting from hexosaminidase A deficiency. The monosialoganglioside is stored in central and peripheral neuronal cells. Infants present with hyperacusis and irritability, hypotonia, and failure to develop motor skills. Blindness with macular cherry red spots and seizures are evident in the first year. Death occurs within a few years. Autosomal-recessive transmission; found primarily in Jewish populations. SYN: infantile GM2 gangliosidosis.
- Thiemann d. SYN: Thiemann syndrome.
- third d. SYN: rubella.
- Thomsen d. SYN: myotonia congenita.
- Thygeson d. SYN: superficial punctate keratitis.
- thyrocardiac d. heart d. resulting from hyperthyroidism.
- thyrotoxic heart d. cardiac symptoms, signs, and physiologic impairment due to overactivity of the thyroid gland usually due to excessive sympathetic stimulation.
- Tornwaldt d. SYN: Tornwaldt cyst.
- torsion d. of childhood SYN: dystonia musculorum deformans.
- Tourette d. SYN: Tourette syndrome.
- Trevor d. SYN: tarsoepiphyseal aclasis.
- tropical diseases infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas d., leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne. SEE ALSO: emerging viruses, under virus.
- tsutsugamushi d. an acute infectious d., caused by Rickettsia tsutsugamushi and transmitted by Trombicula akamushi and T. deliensis, that occurs in harvesters of hemp in some parts of Japan; characterized by fever, painful swelling of the lymphatic glands, a small blackish scab on the genitals, neck, or axilla, and an eruption of large dark red papules. SYN: akamushi d., flood fever, inundation fever, island d., island fever, Japanese river fever, kedani fever, mite typhus, scrub typhus, shimamushi d., tropical typhus, tsutsugamushi fever.
- Unna d. SYN: seborrheic dermatitis.
- Unverricht d. [MIM*254800] a progressive myoclonic epilepsy; one of the degenerative gray matter disorders characterized by myoclonus and generalized seizures, with progressive neurologic and intellectual decline; age of onset between 8–13 years of age; autosomal recessive inheritance, caused by mutation in the cystatin B gene (CSTB) on 21q22.
- Urbach-Wiethe d. SYN: lipoid proteinosis.
- vagabond's d. SYN: parasitic melanoderma.
- vagrant's d. SYN: parasitic melanoderma.
- van Buren d. SYN: Peyronie d..
- Vaquez d. SYN: polycythemia vera.
- venoocclusive d. of the liver obliterating endophlebitis of small hepatic vein radicles, described in Jamaican children, associated with ingestion of toxic plant substances in bush tea; causes ascites, which may progress to cirrhosis.
- Vincent d. SYN: necrotizing ulcerative gingivitis.
- Virchow d. SYN: megacephaly.
- virus X d. an old term applied to a number of virus diseases of obscure etiology, e.g., Australian X d. (Murray Valley encephalitis).
- Vogt-Spielmeyer d. SYN: Spielmeyer-Vogt d..
- Voltolini d. infectious d. of the labyrinth, leading to meningitis in young children.
- von Economo d. a unique encephalitis, presumably viral in origin, which followed the influenza pandemic of 1914–1918. Symptoms included ophthalmoplegia and marked somnolence, and in many survivors, the delayed development of Parkinson d.; the basis for postencephalitic Parkinsonism. SYN: encephalitis lethargica, polioencephalitis infectiva.
- von Gierke d. SYN: type 1 glycogenosis.
- von Willebrand d. [MIM*193400] a hemorrhagic diathesis characterized by tendency to bleed primarily from mucous membranes, prolonged bleeding time, normal platelet count, normal clot retraction, partial and variable deficiency of factor VIIIR, and possibly a morphologic defect of platelets; autosomal dominant inheritance with reduced penetrance and variable expressivity, caused by mutation in the von Willebrand factor gene (VWF) on 12p. Type III von Willebrand d. is a more severe disorder with markedly reduced factor VIIIR levels. There is a recessive version of this d. [MIM*277480] which has the remarkable property that it represents a mutation at the same locus as the dominant form.
- Voorhoeve d. SYN: osteopathia striata.
- Wagner d. SYN: hyaloideoretinal degeneration.
- wasting d. SYN: runt d..
- Weber-Christian d. term used for cases of relapsing febrile nodular nonsuppurative panniculitis (q.v.) of undetermined cause. SYN: relapsing febrile nodular nonsuppurative panniculitis.
- Wegner d. SYN: syphilitic osteochondritis.
- Weil d. a form of leptospirosis generally caused by Leptospira interrogans serogroup icterohaemorrhagiae, believed to be acquired by contact with the urine of infected rats; characterized clinically by fever, jaundice, muscular pains, conjunctival congestion, and albuminuria; agglutinins regularly appear in the serum. SYN: infectious icterus, infectious jaundice (1).
- Werdnig-Hoffmann d. SYN: spinal muscular atrophy, type I.
- Werlhof d. formerly used term for idiopathic thrombocytopenic purpura.
- Wernicke d. SYN: Wernicke syndrome.
- Werther d. SYN: dermatitis nodularis necrotica.
- Wesselsbron d. SYN: Wesselsbron fever.
- Whipple d. a rare d. characterized by steatorrhea, frequently generalized lymphadenopathy, arthritis, fever, and cough; many “foamy” macrophages are found in the jejunal lamina propria; caused by Tropheryma whippleii.
- white spot d. SYN: morphea guttata.
- Wilkie d. SYN: superior mesenteric artery syndrome.
- Wilson d. [MIM*277900] 1. a disorder of copper metabolism, characterized by liver cirrhosis, basal ganglia degeneration, neurological manifestations, and deposition of green or golden brown pigment in the periphery of the cornea; the plasma levels of copper and ceruloplasmin are decreased, urinary excretion of copper is increased, and the amounts of copper in the liver, brain, kidneys, and lenticular nucleus are unusually high while cytochrome oxidase is reduced; autosomal recessive inheritance caused by mutation in the copper-transporting ATPase gene (ATP7B) on chromosome 13q. SYN: hepatolenticular degeneration. SEE ALSO: Kayser-Fleischer ring. [S.A.K. Wilson] 2. SYN: exfoliative dermatitis.
- Winiwarter-Buerger d. SYN: thromboangiitis obliterans.
- Wohlfart-Kugelberg-Welander d. SYN: spinal muscular atrophy, type III.
- woolsorter's d. SYN: pulmonary anthrax.
- Woringer-Kolopp d. SYN: pagetoid reticulosis.
- X d. one of several viral diseases of obscure etiology.
- X-linked lymphoproliferative d. SYN: X-linked lymphoproliferative syndrome.
- Ziehen-Oppenheim d. SYN: dystonia musculorum deformans.

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dis·ease diz-'ēz n an impairment of the normal state of the living animal or plant body or one of its parts that interrupts or modifies the performance of the vital functions, is typically manifested by distinguishing signs and symptoms, and is a response to environmental factors (as malnutrition, industrial hazards, or climate), to specific infective agents (as worms, bacteria, or viruses), to inherent defects of the organism (as genetic anomalies), or to combinations of these factors: SICKNESS, ILLNESS called also morbus compare HEALTH (1)
dis·eased -'ēzd adj

* * *

n.
a disorder with a specific cause and recognizable signs and symptoms; any bodily abnormality or failure to function properly, except that resulting directly from physical injury (the latter, however, may open the way for disease).

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dis·ease (dĭ-zēzґ) [Fr. dиs from + aise ease] any deviation from or interruption of the normal structure or function of a part, organ, or system of the body as manifested by characteristic symptoms and signs; the etiology, pathology, and prognosis may be known or unknown.

See also under sickness and syndrome.


Medical dictionary. 2011.

Synonyms:

Look at other dictionaries:

  • disease — n Disease, disorder, condition, affection, ailment, malady, complaint, distemper, syndrome denote a de ranged bodily state usually associated with or amounting to a loss of health. Disease in its usual and broadest use implies an impairment of… …   New Dictionary of Synonyms

  • Disease — Dis*ease , n. [OE. disese, OF. desaise; des (L. dis ) + aise ease. See {Ease}.] 1. Lack of ease; uneasiness; trouble; vexation; disquiet. [Obs.] [1913 Webster] So all that night they passed in great disease. Spenser. [1913 Webster] To shield thee …   The Collaborative International Dictionary of English

  • disease — [di zēz′] n. [ME disese, inconvenience, trouble, sickness < OFr desaise, discomfort < des , DIS + aise, EASE] 1. any departure from health; illness in general 2. a particular destructive process in an organ or organism, with a specific… …   English World dictionary

  • Disease — Dis*ease , v. t. [imp. & p. p. {Diseased}; p. pr. & vb. n. {Diseasing}.] 1. To deprive of ease; to disquiet; to trouble; to distress. [Obs.] [1913 Webster] His double burden did him sore disease. Spenser. [1913 Webster] 2. To derange the vital… …   The Collaborative International Dictionary of English

  • disease — (n.) early 14c., discomfort, inconvenience, from O.Fr. desaise lack, want; discomfort, distress; trouble, misfortune; disease, sickness, from des without, away (see DIS (Cf. dis )) + aise ease (see EASE (Cf. ease)). Sense of sickness, illness in… …   Etymology dictionary

  • disease — I noun affliction, ailment, attack, bodily deviation from health, bout of sickness, breakdown, chronic disability, collapse, condition, contagion, defect, deterioration, disability, discomfort, disorder, distemper, epidemic, handicap, ill health …   Law dictionary

  • disease — [n] ailment, affliction ache, affection, attack, blight, breakdown, bug*, cancer, canker, collapse, complaint, condition, contagion, contamination, convulsions, debility, decrepitude, defect, disorder, distemper, endemic, epidemic, feebleness,… …   New thesaurus

  • disease — ► NOUN ▪ a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms. DERIVATIVES diseased adjective. ORIGIN Old French desaise lack of ease …   English terms dictionary

  • Disease — Human disease redirects here. For the Slayer song, see Soundtrack to the Apocalypse. Flare up redirects here. For the Transformers character, see Flareup (Transformers). Medical condition redirects here. For the descriptive terminology using… …   Wikipedia

  • disease — diseasedly, adv. diseasedness, n. /di zeez /, n., v., diseased, diseasing. n. 1. a disordered or incorrectly functioning organ, part, structure, or system of the body resulting from the effect of genetic or developmental errors, infection,… …   Universalium

  • disease — I (New American Roget s College Thesaurus) Condition of ill health Nouns 1. disease, illness, sickness, ailment, ailing; morbidity, infirmity, ailment, indisposition; complaint, disorder, malady; functional disorder. 2. condition, affliction,… …   English dictionary for students

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