Pediatric Hypohidrotic Ectodermal Dysplasia

Pediatric Hypohidrotic Ectodermal Dysplasia

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Summary

Hypohidrotic ectodermal dysplasia is a congenital (present at birth) condition that causes a variety of typically mild complications.

Expanded overview

A child with hypohidrotic ectodermal dysplasia usually has trouble regulating their body temperature, is missing teeth and has fine, thin hair. Children with this hereditary (passed down in families) condition also have a distinctive facial appearance. Despite these differences, people with hypohidrotic ectodermal dysplasia typically have normal intelligence and development, and no major problems.

Causes

A gene mutation causes hypohidrotic ectodermal dysplasia and it is passed down in families (hereditary).

Symptoms

Signs and symptoms of hypohidrotic ectodermal dysplasia include:

  • Chronic respiratory illness
  • Chronic sinusitis
  • Dark circles around a child’s eyes
  • Depressed nose
  • Dry eyes
  • Dry mouth and nasal passages
  • Eczema (very dry, scaly skin)
  • Hypodontia (missing teeth)
  • Hypohidrosis (trouble sweating to cool down the body)
  • Hypotrichosis (fine, sparse hair)
  • Skin that peels unusually
  • Small, narrow jawline
  • Small, pointy teeth
  • Teeth that are slow to erupt (emerge through the gum)
  • Trouble regulating body temperature (can lead to being irritable in warm environments or unexplained fevers)

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