Sjögren–Larsson syndrome
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| Sjögren-Larsson syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q87.1 (ILDS Q87.136) |
| ICD-9-CM | 757.1 (CDC/BPA 757.120) |
| OMIM | 270200 |
| DiseasesDB | 30051 |
| eMedicine | derm/706 |
| Patient UK | Sjögren–Larsson syndrome |
| MeSH | D016111 |
Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.[1]:485[2]:564[3] Sjögren–Larsson syndrome is a rare autosomal, recessive, neurocutaneous disease. This disease can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is spastic paraplegia which is characterized by leg spasms. The final identifier is intellectual delay. The gene of SLS is found on chromosome 17. In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a ¼ chance of getting the disease. In 1957 Sjogren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago. Today only 30-40 persons in Sweden have this disease.[4]
Contents
Causes
It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.[5]
Genetics
This condition is inherited in an autosomal recessive pattern.
Pathological features
- Dry and scaly skin similar to all other ichtyosiforms (types of ichthyosis).
- Neurological problems - this can often cause mild paralysis in the legs
- Mild to moderate intellectual disability.
Eponym
It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician.[6][7]
It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).
See also
References
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- Sjögren, K. G. Torsten/Larsson, Tage K.: Oligophrenie in combination with congenital ichtyosis and spastic disorders. A clinical and genetic study, in: Acta psychiatrica et neurologica scandinavica, Copenhagen, 1957, 32, supplement 113, p. 9-105.
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ synd/1678 at Who Named It?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
