A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.
Novel mutations in GJB6 and GJB2 in Clouston syndrome. Clin Exp Dermatol 2015; 40: 770-773, doi: 10.1111/ced.12654.
Hidrotic Ectodermal Dysplasia (Clouston Syndrome
): The clinical features include nail dystrophy, hair defects and palmoplantar dyskeratosis.
Hidrotic form/ Clouston syndrome
The hypohidrotic ectodermal dysplasia is found to be the most common form among this large group of hereditary disorders, and is estimated to affect at least one in 17,000 people worldwide .
Ectodermal dysplasia (ED) is an inherited disorder in which two or more ectodermally derived structures fail to develop, or are abnormal in development.1 To date, more than 170 distinct disorders have been described.2 The more common are hypohidrotic ED (Christ- Siemens-Touraine syndrome) and hidrotic ED (Clouston syndrome
(3) This led to the first classification of the EDs: the hidrotic type (Clouston syndrome) and the anhidrotic (sic) type (HED).
People with the Clouston syndrome have characteristic thin, dry hair, and thick nails that are often discolored (Figure Two).
I have learned that many of these symptoms are associated with something called hydrotic ectodermal dysplasia (also known as Clouston syndrome
, a group of genetic syndromes involving the hair, teeth, and nails which includes extreme sensitivity to light, neurodevelopmental problems, and dysmorphic facial features).