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: Rangan Srinivasaraghavan, Sriram Krishnamurthy, Rumesh Chandar, Denise Cassandrini, Subramanian Mahadevan, Claudio Bruno, Filippo M Santorelli
• Journal: Pediatric dermatology (Pediatr Dermatol) 2014 Sep-Oct Vol. 31 Issue 5 Pg. 612-4 ISSN: 1525-1470 [Electronic] United States
• PMID: 23756328 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

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

Topics

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