TY - JOUR
T1 - Acitretin-responsive ichthyosis in chanarin-dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene
AU - Srinivasaraghavan, Rangan
AU - Krishnamurthy, Sriram
AU - Chandar, Rumesh
AU - Cassandrini, Denise
AU - Mahadevan, Subramanian
AU - Bruno, Claudio
AU - Santorelli, Filippo M.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1111/pde.12170
DO - 10.1111/pde.12170
M3 - Article
C2 - 23756328
AN - SCOPUS:84908391123
VL - 31
SP - 612
EP - 614
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 5
ER -