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Beneficial effect of acitretin in Chanarin–Dorfman syndrome
Author(s) -
Israeli S.,
Pessach Y.,
Sarig O.,
Goldberg I.,
Sprecher E.
Publication year - 2012
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2011.04164.x
Subject(s) - tel aviv , medicine , center (category theory) , library science , dermatology , chemistry , computer science , crystallography
Summary Chanarin–Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder characterized by congenital ichthyosis and visceral complications due to accumulation of neutral lipids. CDS is caused by mutations in the ABHD5 (previously termed CGI‐58) gene. In the present study, we assessed a young child presenting with ichthyosis and hepatomegaly, suggesting a diagnosis of CDS. We identified an intronic mutation, c.960 + 5G > A, which was found to result in skipping of exon 6. Abnormal results on liver function tests led us to treat the child with acitretin, which resulted in satisfactory clinical and laboratory responses. The present case illustrates the beneficial effect of acitretin treatment in CDS even in the presence of compromised liver function.