Pediatric Dentistry · patient case question
Which additional finding would you most expect on further examination of this patient?
Patient case: Sparse Hair, Dry Skin, Missing Teeth
Patient: 9-year-old male
Chief Complaint: Mother: “He has almost no teeth, and he can’t handle hot weather at all.”
Background: Recurrent unexplained fevers each summer, previously attributed to viral illness. Two maternal uncles reportedly “had the same teeth problem.” Normal cognitive development.
Medications: None
Vital Signs: BP 98/62 mmHg · HR 88 bpm · RR 18 · T 98.8°F
Findings: Sparse, fine, light-colored scalp hair; sparse eyebrows. Frontal bossing, depressed nasal bridge, protuberant lips, and fine wrinkling of periorbital skin. Skin dry and smooth; mother reports he almost never sweats. Intraorally, several conical anterior teeth and multiple missing teeth with knife-edge alveolar ridges.
Show answer and explanation
Correct answer: C. Dry eyes and reduced salivary flow
- A. Incorrect. Blue sclerae reflect thin scleral collagen and point to osteogenesis imperfecta or Ehlers-Danlos syndrome, not to a defect of ectodermal derivatives.
- B. Incorrect. Palmoplantar hyperkeratosis is a feature of Papillon-Lefèvre syndrome and would be accompanied by aggressive periodontal destruction, not congenital tooth absence.
- C. Correct. Ectodermal dysplasia affects all structures of ectodermal origin, and that includes the lacrimal, salivary, nasal, and bronchial glands. Reduced tear production causes dry, irritated eyes, and reduced saliva causes xerostomia with a markedly elevated caries risk.
- D. Incorrect. Clavicular abnormality points to cleidocranial dysplasia, where clavicles are hypoplastic or absent — which allows the shoulders to approximate — rather than bulbous.
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