title: Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases.
abstract: Dorfman-Chanarin syndrome, or neutral lipid storage disease with ichthyosis, is a rare inherited metabolic disorder characterized by accumulation of neutral lipids in different tissues. Variability in dermatologic severity is not understood. We report two new cases, compare their features with other reported cases, and examine the possible relationship between the severity of the dermatologic condition and lipid accumulation in various types of skin cells. The localization of lipid droplets was determined in various dermal and epidermal cells by light microscopy of epoxy resin semithin sections and electron microscopy in four cases of Dorfman-Chanarin syndrome. Lipid droplets in the dermis were detected in fibroblasts, Schwann cells in both myelinated and unmyelinated nerves, smooth muscle cells, and sweat gland cells, but not in endothelial cells of blood capillaries. The droplets were not surrounded by a membrane. Findings indicate that there is no correlation between the clinical severity of the disease and the microscopic findings.
authors.affiliation: Department of Dermatology, Tel Aviv-Sourasky Medical Center and the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Srebrnik
authors.forename: S
authors.initials: S
authors.lastname: Brenner
authors.forename: B
authors.initials: B
authors.lastname: Ilie
authors.forename: G
authors.initials: G
authors.lastname: Messer
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000473:pathology*; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D013577:Syndrome