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Anhidrotic ectodermal dysplasia - Skin
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Anhidrotic ectodermal dysplasia - Skin

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Anhidrotic ectodermal dysplasias (AED) are inherited disorders characterized by abnormalities of eccrine (sweat) glands, hair, teeth, nails, and other ectodermal appendages (mucous-secreting glands of the GI and respiratory tract, sebaceous glands, and lacrimal glands). The most common form of AED is X-linked (1–7/100,000 newborns), although rare autosomal recessive and dominant forms exist and are clinically identical. Complications can include hyperthermia due to high environmental conditions, poor growth in infancy, and recurrent respiratory infections, presumably because of abnormal mucous gland secretions. Death is rarely a complication in the neonatal period. Mentation is normal.

For more information, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
7731005 – Anhidrotic ectodermal dysplasia

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Lamellar ichthyosis – If extreme scaling at birth.
  • Malar hypoplasia – May be mistaken for congenital syphilis.
  • Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC)
  • Hay-Wells syndrome (AEC)
  • Rapp-Hodgkin syndromes – All include cleft lips.
  • Zanier-Roubicek syndrome – Normal brows and lashes.
  • Fried's tooth and nail syndrome – Normal sweating and severe nail dystrophy.
  • AED with hypothyroidism
  • Berlin's syndrome – 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 AED.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 03/29/2017
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Anhidrotic ectodermal dysplasia - Skin
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Anhidrotic ectodermal dysplasia : Heat intolerance, Peg shaped teeth, Sparse body hair, Sparse eyebrows, Hypohidrosis, Alopecia
Clinical image of Anhidrotic ectodermal dysplasia
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