Sjögren‐Larsson Syndrome: Case Reports

Dianne Levisohn, Brenda Dintiman, William B. Rizzo

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Abstract: Sjögren‐Larsson syndrome (SLS) is a rare, autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia, and mental retardation. An enzymatic defect in fatty alcohol oxidation recently was identified and is thought to be responsible for the disorder. We report two siblings with SLS. In addition to the typical features of the syndrome, the sister had marked hyperkeratosis of the palms and soles, which is rarely seen to this degree. The brother had joint hyperextensibility, which has not been reported previously. Both individuals had documented deficient activity of fatty alcohol:NAD+ oxidoreductase.

Original languageEnglish (US)
Pages (from-to)217-220
Number of pages4
JournalPediatric dermatology
Volume8
Issue number3
DOIs
StatePublished - Sep 1991

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Fingerprint Dive into the research topics of 'Sjögren‐Larsson Syndrome: Case Reports'. Together they form a unique fingerprint.

  • Cite this