The Turkish Journal of Pediatrics 2006 , Vol 48 , Num 3
Dorfman-Chanarin syndrome: a case with hyperlipidemia
1Departments of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey
2Departments of Dermatology, Mersin University Faculty of Medicine, Mersin, Turkey
Düzovalı Ö, İkizoğlu G, Turhan AH, Yılgör E. Dorfman-Chanarin syndrome: a case with hyperlipidemia. Turk J Pediatr 2006; 48: 263-265.

Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also the second case reported with hyperlipidemia. Keywords : congenital ichthyosis, lipid storage disease, cytoplasmic vacuoles

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