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Chanarin‐Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder
Author(s) -
Selimoglu Mukadder Ayse,
Esrefoglu Mukaddes,
Gul Mehmet,
Gungor Serdal,
Yildirim Cigdem,
Seyhan Muammer
Publication year - 2009
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00818.x
Subject(s) - medicine , erythroderma , lipid metabolism , lipid metabolism disorder , vacuole , pathology , ultrastructure , ichthyosis , dermatology , blood lipids , cholesterol , biochemistry , biology , cytoplasm
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.