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Pathology · single question

A 3-year-old child has NO teeth, periorbital wrinkles, and heat intolerance (inability to sweat). The MOST likely diagnosis is:

  1. Ectodermal dysplasia (classic triad: hypohidrosis, hypotrichosis, hypodontia + heat intolerance)
  2. Cleidocranial dysplasia (supernumerary teeth, not absent)
  3. Gorlin syndrome (multiple BCCs, OKCs)
  4. Cherubism (bilateral jaw expansion)
Show answer and explanation

Correct answer: A. Ectodermal dysplasia (classic triad: hypohidrosis, hypotrichosis, hypodontia + heat intolerance)

  • A. Correct. Ectodermal dysplasia affects ectoderm-derived structures: TEETH (hypo/anodontia), SWEAT GLANDS (hypohidrosis → heat intolerance — the most DANGEROUS feature, especially in children as hyperthermia can be life-threatening), HAIR (sparse), NAILS (dystrophic). Periorbital wrinkles and dry skin are also classic. Management requires a MULTIDISCIPLINARY team: pediatrician, dentist (prosthetics for missing teeth), dermatologist.
  • B. Cleidocranial dysplasia: absent or hypoplastic clavicles + SUPERNUMERARY teeth + open fontanelles — opposite dental finding.
  • C. Gorlin syndrome: multiple BCCs + OKCs + bifid ribs — no heat intolerance or anodontia.
  • D. Cherubism: bilateral mandibular/maxillary expansion with multilocular radiolucencies — no tooth absence or sweat gland issue.

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