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Sjögren-Larsson syndrome: case reports.

D Levisohn1, B Dintiman, W B Rizzo

  • 1Department of Dermatology University of New Mexico, Albuquerque 87131.

Pediatric Dermatology
|September 1, 1991
PubMed
Summary

Sjögren-Larsson syndrome (SLS) is a rare genetic disorder. This study details two siblings with SLS, highlighting unique symptoms and confirming the enzymatic defect in fatty alcohol oxidation.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder.
  • SLS is characterized by ichthyosis, spastic diplegia, and mental retardation.
  • An enzymatic defect in fatty alcohol oxidation is implicated in SLS.

Observation:

  • Two siblings diagnosed with Sjögren-Larsson syndrome were studied.
  • The sister presented with severe palmoplantar hyperkeratosis, a rare manifestation.
  • The brother exhibited joint hyperextensibility, a previously unreported feature in SLS.

Findings:

  • Both siblings demonstrated deficient activity of the enzyme fatty alcohol:NAD+ oxidoreductase.
  • This confirms the enzymatic defect as central to the pathophysiology of SLS in these cases.

Implications:

  • These findings expand the clinical spectrum of Sjögren-Larsson syndrome.
  • Understanding the enzymatic defect aids in diagnosing and potentially managing SLS.
  • Further research into fatty alcohol oxidation pathways may reveal therapeutic targets.

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