Syndrome, Sjogren-Larsson
The Sjogren-Larsson syndrome is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish-like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results in fish-like, reddened skin. Hyperkeratosis (thickening of the skin) is a regular feature. Ecchymoses (bruises) are present at birth or soon after in the Sjogren-Larsson syndrome. Sweating is normal. The spasticity can also affect the arms as well as the legs, resulting in spastic paraplegia. The mental retardation is significant. Most of the patients never walk. About half the patients have seizures. Eye problems are also part of the syndrome. About half of cases have pigmentary degeneration of the retina. Glistening white dots on the retina are characteristic. People with Sjogren-Larsson syndrome tend to be unusually short. Sjogren in 1956 (and Sjogren and Larsson in 1957) suggested that all Swedes with the syndrome are descended from one ancestor in whom a mutation (a genetic change) occurred about 600 years ago. This mutation is now present in at least 1% of the population in northern Sweden. This phenomenon is called founder effect (because everyone is descended from one "founder" within what was once a tiny group of people). The gene for the Sjogren-Larsson syndrome has been found situated on chromosome number 17 (in band 17p11.2). The presence in a person of one copy of the gene (the heterozygous state) is harmless. However, if two gene carriers (heterozygotes) mate, the risk for each of their children is one-quarter to receive both of their Sjorgren-Larsson genes and to have the syndrome. The inheritance of Sjogren-Larsson syndrome is thus termed autosomal (non-sexlinked) recessive. The laboratory findings are critically important. There is a deficiency of an enzyme called fatty aldehyde dehydrogenase 10 (FALDH10)in the Sjogren-Larsson syndrome. The syndrome is due to a deficit of FALDH10 and the gene for the Sjogren-Larsson syndrome gene is synonymous with the FALDH10 gene. Some clinical improvement has been reported to occur with fat restriction in the diet and supplementation with medium-chain triglycerides. Persons of diverse and different ethnic origins are now known with the Sjogren-Larsson syndrome. They include not only Swedes but, for example, members of families of other European, Arabic, and native American (AmerIndian) descent. This is evidence for genetic homogeneity (what appears clinically to be one genetic disease is in reality due to a diversity of mutations. All of the mutations causing Sjogren-Larsson syndrome have proved to be changes in the FALDH gene. The Sjogren-Larsson syndrome is sometimes called the T. Sjogren syndrome to distinguish it from the sicca syndrome, which was described by Henrick Sjogren, a Swedish ophthalmologist. The Sjogren of the Sjorgren-Larsson syndrome was Torsten Sjogren (1896-1974), professor of psychiatry at the celebrated Karolinska Hospital in Stockholm and a pioneer in modern psychiatry and medical genetics. Tage Larsson was similarly a Swedish physician. The Sjogren-Larsson syndrome is also known as SLS; the ichthyosis, spastic neurologic disorder, and oligophrenia (an old word for mental retardation) syndrome; fatty alcohol: NAD+ oxidoreductase deficiency (FAO deficiency); fatty aldehyde dehydrogenase deficiency (FALDH deficiency); or fatty aldehyde dehydrogenase 10 deficiency (FALDH10 deficiency). `

Medical dictionary. 2011.

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  • Sjogren-Larsson syndrome — The Sjogren Larsson syndrome is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin… …   Medical dictionary

  • Sjögren-Larsson syndrome — Infobox Disease Name = Sjögren Larsson syndrome Caption = DiseasesDB = 30051 ICD10 = ICD10|Q|87|1|q|80 (ILDS Q87.136) ICD9 = ICDO = OMIM = 270200 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 706 MeshID = D016111 Sjögren Larsson syndrome… …   Wikipedia

  • Sjögren-Larsson-Syndrom — Das Sjögren Larsson Syndrom (SLS) ist eine seltene Erbkrankheit, die erstmals 1957 von den Stockholmer Psychiatern Karl Gustaf Torsten Sjögren (1896–1974) und Tage Konrad Leopold Larsson (* 1905) beschrieben wurde.[1] Im schwedischen Bezirk… …   Deutsch Wikipedia

  • SLS (Sjogren-Larsson syndrome) — The Sjogren Larsson syndrome is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin… …   Medical dictionary

  • síndrome de Sjögren-Larsson — Eng. Sjögren Larson syndrome Síndrome caracterizado por lesiones maculares con atrofia epitelial pigmentaria, oligofrenia, ictiosis congénita y desórdenes neurológicos espásticos …   Diccionario de oftalmología

  • Sjögren's syndrome — Classification and external resources Histopathologic image of focal lymphoid infiltration in the minor salivary gland associated with Sjögren s syndrome. Lip biopsy. H E stain. ICD 10 …   Wikipedia

  • Syndrome of ichthyosis, spasticity, & oligophrenia — Also known as the Sjogren Larsson syndrome, this is a genetic (inherited) disease characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental… …   Medical dictionary

  • Larsson-Syndrom — Das Sjögren Larsson Syndrom (SLS) ist eine seltene Erbkrankheit, die erstmals 1957 von den Stockholmer Psychiatern Karl Gustaf Torsten Sjögren (1896 1974) und Tage Konrad Leopold Larsson (* 1905) beschrieben wurde.[1] Im schwedischen Bezirk… …   Deutsch Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Sjögren — Henrik C., Swedish ophthalmologist, 1899–1986. See S. disease, S. syndrome, Gougerot S. disease. Torsten, Swedish physician, 1859–1939. See S. Larsson syndrome, Torsten S. syndrome, Marinesco S. syndrome …   Medical dictionary

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