title: Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity.
abstract: A number of inherited disorders of cornification have been related to abnormal lipid metabolism. In the recessively inherited Sjögren-Larsson syndrome, defined by the triad of ichthyosis, mental retardation, and spasticity, fatty alcohol:NAD+ oxidoreductase deficiency has recently been reported. These patients accumulate fatty alcohol in the plasma and cultured fibroblasts. A 19-year-old woman with ichthyosis, mental retardation, and mild spasticity is described in whom fatty alcohol metabolism was normal, as determined by plasma octadecanol level and fibroblast fatty alcohol:NAD+ oxidoreductase activity. Ultrastructural studies on skin from the patient revealed morphologically abnormal epidermal lamellar bodies, not unlike those seen in neutral lipid storage disease with ichthyosis. We postulate that this patient has a novel neurocutaneous syndrome that may be secondary to abnormal lipid metabolism.
authors.affiliation: Division of Dermatology, Duke University Medical Center, Durham, NC.
authors.forename: M D
authors.initials: MD
authors.lastname: Koone
authors.forename: W B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: P M
authors.initials: PM
authors.lastname: Elias
authors.forename: M L
authors.initials: ML
authors.lastname: Williams
authors.forename: V
authors.initials: V
authors.lastname: Lightner
authors.forename: S R
authors.initials: SR
authors.lastname: Pinnell
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000378:metabolism*; D005233:Fatty Alcohols / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000473:pathology*; D008607:Intellectual Disability / Q000201:enzymology / Q000473:pathology*; D008055:Lipids / Q000032:analysis; D009128:Muscle Spasticity / Q000201:enzymology / Q000473:pathology*; D012867:Skin / Q000737:chemistry / Q000201:enzymology / Q000648:ultrastructure; D013577:Syndrome; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D005233:Fatty Alcohols; D008055:Lipids; D000429:Alcohol Oxidoreductases; C065402:long-chain-alcohol dehydrogenase