Pathology · patient case question
What is the diagnosis for Patient C?
Patient case: Three radiopacities on three panoramic films
Patient: Three separate patients
Chief Complaint: Each attended for routine or eruption-related assessment.
Background: Patient A: 12-year-old, permanent maxillary central incisor has failed to erupt. Patient B: 44-year-old, asymptomatic. Patient C: 31-year-old, referred by a physician; a sibling had bowel surgery in his twenties.
Findings: Patient A: a cluster of multiple small tooth-like radiopacities in the ANTERIOR MAXILLA overlying the unerupted incisor, each with a narrow radiolucent rim. Patient B: a uniformly dense, well-defined radiopacity at the apex of the mandibular first molar, which carries deep caries; no expansion. Patient C: multiple unerupted and supernumerary teeth, several dense bony masses of the jaws and skull, and a history of colorectal polyps in the family.
Show answer and explanation
Correct answer: A. Gardner syndrome
- A. CORRECT. GARDNER SYNDROME is a variant of familial adenomatous polyposis, autosomal dominant, caused by mutation of the APC gene. Its oral and skeletal triad is multiple OSTEOMAS of the jaws and skull, supernumerary and impacted teeth, and ODONTOMAS; extra-orally there are epidermoid cysts and desmoid tumours. It matters more than any of the alternatives for one reason: the colorectal adenomatous polyps undergo malignant transformation in essentially 100% of untreated cases, so recognising the jaw findings and referring for colonoscopy is potentially life-saving.
- B. Cleidocranial dysplasia shares a great deal of the dental picture — retained primary teeth, multiple unerupted permanents and numerous supernumeraries, in fact MORE supernumeraries than Gardner syndrome typically produces. But it is defined by hypoplastic or absent CLAVICLES and delayed closure of the fontanelles, and it produces neither osteomas nor intestinal polyps.
- C. Gorlin-Goltz syndrome produces multiple ODONTOGENIC KERATOCYSTS and basal cell carcinomas, not osteomas and odontomas. The lesions are radiolucent, not radiopaque.
- D. Hypohidrotic ectodermal dysplasia gives hypodontia or anodontia with conical teeth, reduced sweating with heat intolerance, sparse hair and dry skin. Its teeth are MISSING rather than supernumerary — the opposite dental finding.
Note: The pairing to carry into the exam, exactly as the recall frames it: ODONTOMA and OSTEOMA → Gardner. Multiple OKCs → Gorlin. Multiple unerupted teeth with absent clavicles → cleidocranial dysplasia. Dentigerous cysts around unerupted teeth are also a feature of cleidocranial dysplasia. Both Gardner and cleidocranial dysplasia can present with hypodontia or oligodontia alongside supernumeraries, which is what makes them so easy to confuse.