Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

ABSTRACT:

Background

Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries.

Case presentation

In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic e

SUBMITTER: Durdu M 

PROVIDER: S-EPMC5975656 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature