Sjögren-Larsson Syndrome

Other names: none

OMIM: 270200

Inheritance: autosomal recessive

Incidence: rare

Key findings:

  • skin: generalized, small, usually dark scales with underlying erythema; central face is often relatively spared; itching is usual; hair and nails are normal

Associated findings:

  • neurologic: spastic di- or tetraplegia; mental retardation is typical; epilepsy (1/3)
  • eyes: photophobia and poor vision (common)
  • teeth: enamel defects (common)

Age at first appearance: skin changes may be present at birth; usually appear within the first year
Long-term course: scales generally get larger and darker with time and the erythema fades; mental retardation is non-progressive; neuromuscular deficits progress through puberty then stabilize

Diagnostic tests: biochemical measurements on skin fibroblasts; analysis of cellular DNA

Abnormal gene: fatty aldehyde dehydrogenase

 

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