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Sjögren–Larsson syndrome

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Title: Sjögren–Larsson syndrome  
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Sjögren–Larsson syndrome

Not to be confused with Sjögren's syndrome.
Sjögren-Larsson syndrome
Classification and external resources
ICD-10 9 OMIM DiseasesDB eMedicine MeSH D016111

Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.[1]:485[2]:564[3] Sjögren–Larsson syndrome (SLS) 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 mental retardation. 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 1% of Northern Sweden's population has this disease.

Causes

It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.[4]

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 mental retardation.

Eponym

It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905-1998), a Swedish Medical Statistician.[5][6]

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

See also

References

External links

  • eNotes
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