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Hidrotic ectodermal dysplasia - Skin in Adult
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Hidrotic ectodermal dysplasia - Skin in Adult

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH, Michael D. Tharp MD
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Synopsis

Hidrotic ectodermal dysplasia, or Clouston syndrome, is a rare autosomal dominant disease affecting hair, nails, and skin that is caused by a mutation in connexin 30 (GJB6) gene. Patients are often of French-Canadian descent, although the disease is not limited to those of French-Canadian ancestry. Phenotype can be variable. Males and females are equally affected.

Patients with hidrotic ectodermal dysplasia have fragile, wiry hair that often progresses to alopecia in late life. In infancy, nails appear thickened and milky white; then they evolve into short, thickened nails in adulthood. Patients also frequently have focal palmoplantar keratoderma.

In contrast to hypohidrotic/anhidrotic ectodermal dysplasia, these patients have normal capacity to sweat and often have normal dentition.

For more information, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia

SNOMEDCT:
54209007 – Hidrotic ectodermal dysplasia

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Last Updated: 03/29/2017
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Hidrotic ectodermal dysplasia - Skin in Adult
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Hidrotic ectodermal dysplasia : Micronychia, Palms and soles, Sparse body hair, Sparse eyebrows, Symmetric extremities, Eyelash loss, Diffuse white nails
Clinical image of Hidrotic ectodermal dysplasia
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