Beneficial effect of acitretin in Chanarin-Dorfman syndrome

S. Israeli, Y. Pessach, O. Sarig, I. Goldberg, E. Sprecher*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)31-33
Number of pages3
JournalClinical and Experimental Dermatology
Volume37
Issue number1
DOIs
StatePublished - Jan 2012

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