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November 1990

Ichthyosis, Mental Retardation, and Asymptomatic Spasticity: A New Neurocutaneous Syndrome With Normal Fatty Alcohol:NAD+ Oxidoreductase Activity

Author Affiliations

From the Division of Dermatology, Duke University Medical Center, Durham, NC (Drs Koone, Lightner, and Pinnell); Departments of Pediatrics and Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond (Dr Rizzo); and Departments of Dermatology (Drs Elias and Williams) and Pediatrics (Dr Williams), University of California School of Medicine, San Francisco.

Arch Dermatol. 1990;126(11):1485-1490. doi:10.1001/archderm.1990.01670350099017

• 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.

(Arch Dermatol. 1990;126:1485-1490)

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