Sjögren-Larsson syndrome

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 (or Rud's syndrome) is a form of ichthyosis and is therefore referred to as an ichthyosiform.

Causes

It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.cite journal |author=Sillén A, Anton-Lamprecht I, Braun-Quentin C, "et al" |title=Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome |journal=Hum. Mutat. |volume=12 |issue=6 |pages=377–84 |year=1998 |pmid=9829906 |doi=10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I |url=http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I]

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. [WhoNamedIt|synd|1678] cite journal |author=SJOGREN T, LARSSON T |title=Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study |journal=Acta Psychiatr Neurol Scand Suppl |volume=113 |issue= |pages=1–112 |year=1957 |pmid=13457946 |doi= |url=]

It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).

References

External links

* [http://health.enotes.com/neurological-disorders-encyclopedia/sjogren-larsson-syndrome eNotes]


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  • 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

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  • 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

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  • 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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