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 language||English (US)|
|Number of pages||4|
|State||Published - Sep 1991|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health