Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM |
Ref : Pediatr Dermatol , 31 :612 , 2014 |
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. |
PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
PubMedID: 23756328 |
Gene_locus related to this paper: human-ABHD5 |
Mutation | IVS3-3C>G_human-ABHD5 |
Gene_locus | human-ABHD5 |
Disease | Chanarin-Dorfman syndrome |
Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM (2014)
Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene
Pediatr Dermatol
31 :612
Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM (2014)
Pediatr Dermatol
31 :612