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Pathology · patient case with 3 questions

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.

Question 1

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

  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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Question 2

What is the MOST appropriate prosthodontic management at this age?

  1. Place endosseous implants now to restore the missing teeth
  2. Fixed bridgework spanning both arches
  3. Extract the remaining conical teeth and provide complete dentures
  4. Removable overdentures or partial dentures, relined and remade as he grows
Show answer and explanation

Correct answer: D. Removable overdentures or partial dentures, relined and remade as he grows

  • A. An osseointegrated implant behaves like an ankylosed tooth. Placed in a growing jaw it becomes progressively infra-occluded as the alveolus develops around it.
  • B. Fixed bridgework requires sound abutments, which severe hypodontia does not provide, and a fixed span cannot adapt to a growing jaw.
  • C. Extracting healthy teeth destroys the alveolar bone he will need later — every retained tooth preserves ridge volume for future implants.
  • D. CORRECT. During growth the standard of care is REMOVABLE prosthodontics — overdentures or partials that can be relined and remade — combined with orthodontic input and composite reshaping of the conical teeth. Definitive implant reconstruction is deferred to skeletal maturity.

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Question 3

You lay out several treatment pathways and let the family choose. Which ethical principle is being honoured?

  1. Justice
  2. Beneficence
  3. Autonomy
  4. Non-maleficence
Show answer and explanation

Correct answer: C. Autonomy

  • A. Justice concerns fairness in the distribution of care and resources.
  • B. Beneficence is acting for the patient's welfare. It is present here but is not what giving them the choice specifically expresses.
  • C. CORRECT. Presenting the reasonable options with their risks and benefits and letting the patient and family decide is self-determination — AUTONOMY, operationalized as informed consent.
  • D. Non-maleficence is the duty to avoid harm.

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