Sjögren-Larsson syndrome: a case report and literature review

Cutis. 2006 Jul;78(1):61-5.

Abstract

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Mutation
  • Sjogren-Larsson Syndrome / diagnosis*
  • Sjogren-Larsson Syndrome / genetics*