title: Dorfman-Chanarin syndrome. A case report and a 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.
authors.affiliation: Department of Dermatology, Ichilov Medical Center, Tel Aviv, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Srebrnik
authors.forename: E
authors.initials: E
authors.lastname: Tur
authors.forename: C
authors.initials: C
authors.lastname: Perluk
authors.forename: M
authors.initials: M
authors.lastname: Elman
authors.forename: G
authors.initials: G
authors.lastname: Messer
authors.forename: B
authors.initials: B
authors.lastname: Ilie
authors.forename: A
authors.initials: A
authors.lastname: Krakowski
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007962:Leukocytes / Q000473:pathology; D050356:Lipid Metabolism; D008064:Lipidoses / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D014617:Vacuoles / Q000473:pathology