| content | ||||||||||||||||||||||||||||||||||||||||
| Sjögren-Larsson syndrome Classification and external resources |
|
| ICD-10 | Q87.1 (ILDS Q87.136) |
|---|---|
| OMIM | 270200 |
| DiseasesDB | 30051 |
| eMedicine | derm/706 |
| MeSH | D016111 |
Sjögren-Larsson syndrome (or Rud's syndrome) is a form of ichthyosis and is therefore referred to as an ichthyosiform.
Contents |
Causes
It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.[1]
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 paraylsis in the legs
- Mild to moderate mental retardation.
Eponym
It was characterized by Karl Sjögren and Tage Larsson.[2][3]
It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).
References
- ^ Sillén A, Anton-Lamprecht I, Braun-Quentin C, et al (1998). "<377::AID-HUMU3>3.0.CO;2-I Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome". Hum. Mutat. 12 (6): 377–84. doi:. PMID 9829906.
- ^ synd/1678 at Who Named It
- ^ SJOGREN T, LARSSON T (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study". Acta Psychiatr Neurol Scand Suppl 113: 1–112. PMID 13457946.
|
|||||||||||||||||||||||
External links
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
