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Ectodermal dysplasia - Skin
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Ectodermal dysplasia - Skin

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Contributors: 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

Ectodermal dysplasias are a heterogenous group of heritable disorders of the ectoderm that affect the hair, teeth, nails, eccrine (sweat) glands, or other ectodermal tissues (eg, sebaceous glands, mucous secreting glands of the GI and respiratory tract, lacrimal glands). There are well over 100 syndromes involving the ectoderm. This summary describes the most common form, X-linked ectodermal dysplasia, which primarily affects males, though females have mild phenotypic expression.

The syndrome is characterized by minimal or absent sweating, abnormal dentition, craniofacial dysmorphology, failure to thrive, thin hair, and recurrent respiratory infections (presumably because of abnormal mucous gland secretions). Absent sweating can result in pyrexia and hyperthermia. Febrile seizures are possible.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia

SNOMEDCT:
8654005 – Ectodermal dysplasia

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Differential Diagnosis & Pitfalls

It is important to realize that there can be marked variability in a single family with an "ectodermal dysplasia." The differential diagnosis of an individual case can be challenging.
  • Fried syndrome has normal sweating and severe nail dystrophy.
  • Berlin syndrome is characterized by skin pigmentation mottling, normal sweating, and developmental delay.
  • Rosselli-Gulienetti syndrome includes facial clefting and poplitea pterygia as well as the skin and hair features of an ectodermal dysplasia.
  • Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and Hay-Wells syndrome of ectodermal dysplasia (ankyloblepharon-ectodermal dysplasia-cleft lip / palate [AEC], including Rapp-Hodgkin syndrome) include cleft lips.
  • Hidrotic ectodermal dysplasia has no sweating abnormalities and diffuse velvety thickening of the palms and soles.
  • Zanier-Roubicek syndrome has normal brows and lashes.
  • Koshiba trichoonychodental dysplasia has specific dental anomalies and dramatic nail dystrophy.
  • Basan syndrome
  • Hypohidrotic ectodermal dysplasia with hypothyroidism
  • Schopf-Schulz-Passarge is an autosomal recessive syndrome characterized by multiple eyelid apocrine hidrocystoma, palmoplantar hyperkeratosis, hypodontia, and hypotrichosis.
Other ectodermal dysplasias – For a complete list of syndromes, search Ectodermal Dysplasia in the Online Mendelian Inheritance in Man (OMIM) database: https://www.ncbi.nlm.nih.gov/omim.

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Last Updated: 07/11/2019
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Ectodermal dysplasia - Skin
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Ectodermal dysplasia : Micronychia, Hypohidrosis, Alopecia, Teeth abnormalities
Clinical image of Ectodermal dysplasia
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