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Pathology · patient case question

All of the following are characteristic of this patient's condition EXCEPT:

Patient case: 14-year-old with ectodermal dysplasia

Patient: 14-year-old boy, accompanied by his mother.

Chief complaint: Wants something done about his missing teeth.

History: Diagnosed in infancy with hypohidrotic ectodermal dysplasia. Heat intolerance in summer. No other systemic disease, no medications.

Findings: Sparse, fine, light-coloured hair. Dry skin, dystrophic nails. Frontal bossing, depressed nasal bridge, protuberant lips. Severe hypodontia with conical anterior teeth and markedly reduced alveolar ridge height in both arches. Xerostomia.

  1. Sparse, hypoplastic hair
  2. Reduced or absent sweat glands
  3. Adrenal gland dysfunction
  4. Anodontia or severe hypodontia with conical teeth
Show answer and explanation

Correct answer: C. Adrenal gland dysfunction

  • A. Fine, sparse, light-coloured hair with dystrophic nails is classic.
  • B. Hypohidrosis is a cardinal feature and the reason these children present with unexplained fevers and heat intolerance.
  • C. CORRECT — this is the exception. Ectodermal dysplasia affects tissues of ECTODERMAL origin: skin, hair, nails, teeth, and sweat and sebaceous glands. The adrenal cortex is mesodermal and the medulla is neural crest — neither is involved.
  • D. Missing teeth with conical crowns and an underdeveloped ridge is the defining oral presentation.

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