Pathology · patient case with 1 question
Three keratocysts and a changing skin
Patient: Male, 28 years old
Chief Complaint: “My dermatologist wants a dental opinion.”
Background: Three odontogenic keratocysts were enucleated several years ago — one from the maxilla and one from each side of the mandible. No family history was recorded at the time.
Vital Signs: BP 122/76 mmHg · HR 68 bpm
Findings: Multiple pearly, telangiectatic papules on the face and upper trunk, several ulcerated. Small pits on the palms and soles. Frontal bossing with hypertelorism and a broad nasal bridge. A skull radiograph shows a sheet of calcification in the midline above the corpus callosum.
Question 1
What is the diagnosis?
Show answer and explanation
Correct answer: C. Gorlin-Goltz (nevoid basal cell carcinoma) syndrome
- A. Gardner syndrome gives osteomas, odontomas, epidermoid cysts and colonic polyps. It produces neither keratocysts nor basal cell carcinomas.
- B. Peutz-Jeghers syndrome gives perioral and intra-oral melanotic macules with intestinal hamartomatous polyps — pigmentation, not cysts or skin cancers.
- C. CORRECT. Multiple odontogenic keratocysts across more than one quadrant in a young patient, together with multiple basal cell carcinomas of the skin, is NEVOID BASAL CELL CARCINOMA SYNDROME — Gorlin-Goltz syndrome. It is autosomal dominant and arises from mutation of PTCH, the human homologue of Drosophila patched, a tumour suppressor gene on chromosome 9. MULTIPLE KERATOCYSTIC ODONTOGENIC TUMOURS are its most consistent feature. The rest of the picture is all present here: CALCIFICATION OF THE FALX CEREBRI, palmar and plantar pitting with palmoplantar keratosis, and the characteristic facies with frontal bossing, hypertelorism and a broad nasal bridge. Bifid ribs and vertebral anomalies, epidermoid cysts, mild mandibular prognathism, ovarian fibromas and medulloblastoma complete it.
- D. Cowden syndrome produces multiple mucocutaneous trichilemmomas and a cobblestone oral papillomatosis, with a high risk of thyroid and breast malignancy. There are no jaw cysts.
Note: Two practical consequences. First, ANY patient with more than one OKC, or with an OKC under about twenty years of age, should be screened for this syndrome — skull film for falx calcification, chest film for bifid ribs, and dermatology referral. Second, these patients are exquisitely sensitive to IONISING RADIATION, which induces basal cell carcinomas, so radiographic exposure must be justified strictly and radiotherapy avoided where possible.