Clouston Syndrome (ECTD2)

Clouston Syndrome, also known as hidrotic ectodermal dysplasia, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including photophobia An important gene associated with Clouston Syndrome is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. The drugs Immunoglobulins and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and alopecia