title: Beneficial effect of acitretin in Chanarin-Dorfman syndrome.
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.
authors: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: S
authors: S
authors: Israeli
authors: Y
authors: Y
authors: Pessach
authors: O
authors: O
authors: Sarig
authors: I
authors: I
authors: Goldberg
authors: E
authors: E
authors: Sprecher
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics; D017255:Acitretin / Q000627:therapeutic use*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000188:drug therapy* / Q000235:genetics; D007641:Keratolytic Agents / Q000627:therapeutic use*; D008052:Lipid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics; D009135:Muscular Diseases / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D007641:Keratolytic Agents; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D017255:Acitretin