Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene

Pediatr Dermatol. 2014 Sep-Oct;31(5):612-4. doi: 10.1111/pde.12170. Epub 2013 Jun 12.

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.

Publication types

  • Case Reports

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Acitretin / therapeutic use*
  • Consanguinity
  • Diagnosis, Differential
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Ichthyosiform Erythroderma, Congenital / drug therapy*
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Infant
  • Keratolytic Agents / therapeutic use*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / drug therapy*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Liver Function Tests
  • Male
  • Muscular Diseases / diagnosis
  • Muscular Diseases / drug therapy*
  • Muscular Diseases / genetics*
  • Mutation*

Substances

  • Keratolytic Agents
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Acitretin

Supplementary concepts

  • Chanarin-Dorfman Syndrome