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Hidrotic ectodermal dysplasia - Skin in Child
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Hidrotic ectodermal dysplasia - Skin in Child

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly 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.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia

SNOMEDCT:
54209007 – Hidrotic ectodermal dysplasia

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Pachyonychia congenita – Can have dystrophic nails with distal elevation of nail plate, usually affecting all 20 nails. Absence of hyperkeratosis and hair changes will eliminate this condition.
  • Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and Hay-Wells syndrome of ectodermal dysplasia (ankyloblepharon-ectodermal dysplasia-cleft lip / palate [AEC], including Rapp-Hodgkin syndrome) – Types of hidrotic ectodermal dysplasias, but the hallmark of these conditions is palate defects, which easily distinguishes this from hidrotic ectodermal dysplasia.
  • Howel-Evans syndrome – Weight-bearing palmoplantar keratoderma. Patients will lack nail and hair changes.
  • Vohwinkel syndromePalmoplantar keratoderma with scarring alopecia. These patients will typically have deafness and pseudo-ainhum, which will help distinguish this from hidrotic ectodermal dysplasia.
  • Papillon-Lefèvre syndromePalmoplantar keratoderma with sparse hair as well as periodontitis and gingivitis. Patient will have normal nails.
  • Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) – Sparse hair, hypodontia, and characteristic facies with periorbital hyperpigmentation. Hypohidrosis, often presenting as overheating with exercise; limited to no nail abnormalities; and mode of inheritance (X-linked recessive) help to differentiate these patients.

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Therapy

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Last Updated: 07/12/2019
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Hidrotic ectodermal dysplasia - Skin in Child
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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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