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Sjögren‐Larsson Syndrome: Case Reports
Author(s) -
Levisohn Dianne,
Dintiman Brenda,
Rizzo William B.
Publication year - 1991
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1991.tb00863.x
Subject(s) - spastic diplegia , medicine , dermatology , congenital ichthyosis , ichthyosis , psychiatry , cerebral palsy
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.