Dorfman-Chanarin Syndrome
| Autor: | Avigdor Srebrnik, Glenda Messer, Sarah Brenner, Bianca Ilie |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent Hyperkeratosis Genes Recessive Dermatology Lipid Metabolism Inborn Errors Pathology and Forensic Medicine Dermis Internal medicine Lipid droplet Sweat gland medicine Humans Skin business.industry Ichthyosis Lipid metabolism Syndrome General Medicine Ichthyosiform Erythroderma Congenital Lipid Metabolism medicine.disease Dyskeratosis Neutral lipid storage disease Microscopy Electron Endocrinology medicine.anatomical_structure Female business |
| Zdroj: | The American Journal of Dermatopathology. 20:79-85 |
| ISSN: | 0193-1091 |
| DOI: | 10.1097/00000372-199802000-00016 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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