Article
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
Pediatric dermatology - 1 Jan 2000
Çetinarslan Tubanur, Yazıcı Havva, Erdoğan Kadri Murat, Kalkan Uçar Sema, Dalgıç Göksu, Kaya Gizem, Er Esra, Bilaç Cemal, Temiz Peyker, Türel Ermertcan Aylin, Fölster-Holst Regina
Abstract excerpt
Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been...
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