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Pathology · single question

A 14-year-old with ectodermal dysplasia is examined. All of the following are characteristic features EXCEPT:

  1. Reduced or absent sweat glands
  2. Sparse, fine hypoplastic hair
  3. Anodontia or severe hypodontia with conical teeth
  4. Adrenal insufficiency
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Correct answer: D. Adrenal insufficiency

  • A. Hypohidrosis or anhidrosis is a cardinal feature and causes dangerous heat intolerance and unexplained fevers.
  • B. Sparse, fine, light-coloured hair is a classic feature, along with dystrophic nails.
  • C. Anodontia or marked hypodontia with conical, peg-shaped teeth and consequent reduced alveolar ridge development is the defining dental presentation.
  • D. Correct — this is the EXCEPTION. ADRENAL dysfunction is NOT a feature. Ectodermal dysplasia affects tissues of ECTODERMAL origin: skin, hair, nails, teeth and sweat and sebaceous glands. The adrenal cortex is MESODERMAL in origin and the medulla is neural crest — neither is involved.

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