Acitretin-Responsive Ichthyosis in Chanarin–Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI-58 Gene
Article first published online: 12 JUN 2013
© 2013 Wiley Periodicals, Inc.
Volume 31, Issue 5, pages 612–614, September/October 2014
How to Cite
Srinivasaraghavan, R., Krishnamurthy, S., Chandar, R., Cassandrini, D., Mahadevan, S., Bruno, C. and Santorelli, F. M. (2014), Acitretin-Responsive Ichthyosis in Chanarin–Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI-58 Gene. Pediatric Dermatology, 31: 612–614. doi: 10.1111/pde.12170
- Issue published online: 4 SEP 2014
- Article first published online: 12 JUN 2013
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.