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

Rangan Srinivasaraghavan, Sriram Krishnamurthy, Rumesh Chandar, Denise Cassandrini, Subramanian Mahadevan, Claudio Bruno, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)612-614
Number of pages3
JournalPediatric Dermatology
Volume31
Issue number5
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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