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Pathology · single question

ECTODERMAL DYSPLASIA CASE: A father arrives at the dental office complaining that his son has no teeth (anodontia), periorbital wrinkles, and dry skin. What is the most likely diagnosis?

  1. Sjogren's syndrome
  2. Chondroectodermal dysplasia (Ellis-van Creveld)
  3. Down syndrome
  4. Ectodermal Dysplasia
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Correct answer: D. Ectodermal Dysplasia

Hypohidrotic (anhidrotic) Ectodermal Dysplasia is characterized by the classic triad: hypodontia/anodontia, hypotrichosis (sparse hair), and hypohidrosis (reduced sweating). Dry skin, periorbital wrinkles, frontal bossing, and saddle-nose deformity are also classic features. The condition arises from abnormal development of ectodermal derivatives (teeth, hair, nails, sweat glands).
  • A. CORRECT. The triad of anodontia + periorbital wrinkles + dry skin (anhidrosis) is pathognomonic for Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine syndrome).
  • B. Incorrect. Sjogren's syndrome involves dry mouth and dry eyes from autoimmune destruction of exocrine glands — not anodontia or periorbital wrinkles.
  • C. Incorrect. Ellis-van Creveld syndrome features polydactyly, short-limb dwarfism, and natal teeth/hypodontia but not the described skin/wrinkle pattern.
  • D. Incorrect. Down syndrome (Trisomy 21) features intellectual disability, epicanthal folds, and hypodontia, but not the full ectodermal dysplasia triad.

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