Dorfman-Chanarin syndrome: A case report and a review

Avigdor Srebrnik, Ethel Tur, Chaim Perluk, Monica Elman, Glenda Messer, Bianca Ilie, Anatol Krakowski

Research output: Contribution to journalReview articlepeer-review

Abstract

Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.

Original languageEnglish
Pages (from-to)801-808
Number of pages8
JournalJournal of the American Academy of Dermatology
Volume17
Issue number5
DOIs
StatePublished - 1987

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