Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mut...

Report of a Congenital Ichthyosis

A case of congenital ichthiosis 1s presented. Histo­logic pattern and the treatment is discussed. 

Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.

Autosomal recessive congenital ichthyosis (ARCI) includes a wide range of ichthyosis phenotypes, including harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and self-improving collodion ichthyosis (SICI) (1, 2). To date, 9 causative genes for ARCI have been identified (1, 2). ALOXE3 is a causative gene in LI as well as CIE, and it encodes the eLOX-3 li...

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...

A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism