title: Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.
abstract: Chanarin-Dorfman syndrome (CDS) is a rare nonlysosomal neutral lipid storage disorder characterized by congenital ichthyosis, lipid vacuoles in leukocytes (Jordan's anomaly), and hepatomegaly. The authors herein report an 18-month-old boy with ichthyosis and hepatomegaly diagnosed with CDS and confirmed to have a novel c.506-3C>G mutation in the ABHD5/CGI-58 gene. Our case also illustrates that retinoids such as acitretin could be useful in the treatment of skin manifestations in CDS even in the presence of liver derangement.
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
authors.forename: Rangan
authors.initials: R
authors.lastname: Srinivasaraghavan
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: Rumesh
authors.initials: R
authors.lastname: Chandar
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Subramanian
authors.initials: S
authors.lastname: Mahadevan
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D017255:Acitretin / Q000627:therapeutic use*; D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D007223:Infant; D007641:Keratolytic Agents / Q000627:therapeutic use*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D008111:Liver Function Tests; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D009154:Mutation
chemical_list: D007641:Keratolytic Agents; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D017255:Acitretin