Chanarin-Dorfman syndrome is a rare form of
nonbullous congenital ichthyosiform erythroderma caused by mutation in the ABHD5.
The differential diagnosis of Chanarin-Dorfman syndrome includes cataract and
congenital ichthyosis and nonbullous congenital ichthyosiform erythroderma
(NCIE1, due to mutations in TGM1, ALOX12B or the ALOXE3 gene). Also, a form of
neutral lipid storage disease without ichthyosis but with myopathy (NSLDM) is
caused by mutations in the PNPLA2 gene (neutral lipid storage disorders, NLSDs,
are characterized by the presence of triglyceride-containing cytoplasmic
droplets in leukocytes and in other tissues, including bone marrow, skin, and
muscle. Chanarin-Dorfman syndrome is defined as NLSD with ichthyosis, NLSDI).
For additional information see OMIM 275630.
