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Pediatr Dermatol. 2009 Jan-Feb;26(1):40-3. doi: 10.1111/j.1525-1470.2008.00818.x.

Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.

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Division of Pediatric Gastroenterology, Inonu University, Malatya, Turkey.


Chanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.

[Indexed for MEDLINE]

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