Ichthyosis and neutral lipid storage disease

S. Musumeci, A. D'Agata, C. Romano, R. Patane, D. Cutrona

Research output: Contribution to journalArticle

Abstract

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

Original languageEnglish
Pages (from-to)377-382
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume29
Issue number2
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Genetics(clinical)

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    Musumeci, S., D'Agata, A., Romano, C., Patane, R., & Cutrona, D. (1988). Ichthyosis and neutral lipid storage disease. American Journal of Medical Genetics, 29(2), 377-382.