A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

ABSTRACT: BACKGROUND:Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. METHODS:Genomic DNA samples obtained from patient and his paren

SUBMITTER: Eskiocak AH 

PROVIDER: S-EPMC6935165 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature