Gorlin-Goltz syndrome,

Look For First

Multiple odontogenic keratocysts (OKC) in the mandible and maxilla on dental/maxillofacial imaging
Bilamellar (double-layer) calcification of the falx cerebri on CT head
Bifid ribs or other rib anomalies (fusion, splayed, partial agenesis) on chest radiography or CT
Palmar/plantar pitting scars representing basal cell maturation defects

Key Image Findings

Odontogenic keratocysts appear as well-demarcated radiolucencies on panoramic dental radiographs and CT, often multiple and bilateral, with tendency toward mandibular involvement; they are derived from remnants of the dental lamina and represent one of the most common intraoral findings in Gorlin syndrome.
Bilamellar calcification of the falx cerebri is a highly specific finding seen on CT head, representing bilateral layers of calcification in the falx cerebri; this is present in approximately 75-80% of Gorlin syndrome patients and is a major diagnostic criterion.
Calcification of the tentorium cerebelli and petroclinoid ligaments may accompany falcial calcification and is visible on CT head imaging as fine linear densities.
Bifid ribs are the most common skeletal anomaly, appearing as complete or incomplete splitting of the rib shaft on chest X-ray or CT; other rib abnormalities include fusion, splaying, and partial agenesis.
Shortened fourth metacarpal bones are a characteristic skeletal finding visible on hand radiographs, representing relative shortening compared to adjacent metacarpals.
Bridging of the sella turcica occurs in 5-10% of cases and appears as osseous bridging across the sella turcica on sagittal CT or MRI of the head.
Craniofacial anomalies include frontal bossing, macrocephaly, hypertelorism (5% of cases), and high arched palate visible on facial photography, clinical exam, and CT/MRI of the head.
Medulloblastoma occurs in approximately 5% of patients (M:F ~3:1) and requires brain MRI screening; ovarian fibromas and cardiac fibromas are visceral manifestations best characterized on ultrasound, CT, or cardiac MRI.

Differential Diagnosis

Sporadic odontogenic keratocyst: distinguished by solitary presentation rather than multiple OKCs; Gorlin syndrome requires multiple jaw cysts and additional systemic features.
Simple jaw cysts (radicular, dentigerous): smaller, usually associated with dental pathology, lack the systemic syndromic features and characteristic imaging findings of Gorlin syndrome.
Other phakomatoses (neurofibromatosis type 1, tuberous sclerosis): lack the distinctive OKC and rib abnormalities; different craniofacial and CNS features.
Familial adenomatous polyposis (FAP): can present with multiple keratocysts and jaw tumors but features different GI and systemic manifestations; FAP-associated jaw lesions are typically ameloblastomas rather than OKCs.
Focal dermal hypoplasia or other genodermatoses with pitting: palmar/plantar pitting in isolation is nonspecific; Gorlin syndrome requires pitting in conjunction with OKCs, falcial calcification, and/or other major criteria.

Discussion

Gorlin syndrome results from mutation in the PTCH tumor suppressor gene (chromosome 9), which encodes the Sonic Hedgehog receptor; this mutation leads to hedgehog pathway dysregulation and predisposition to multiple tumors and developmental anomalies.

Diagnosis requires either two major criteria or one major and two minor criteria; major criteria include >2 BCCs (or 1 BCC under age 20), multiple OKCs, ≥3 palmar pits, bilamellar falcial calcification, rib anomalies, or first-degree relative with the syndrome.

Patients with Gorlin syndrome are hypersensitive to ionizing radiation due to impaired p53 function, with accumulation of p53 in irradiated cells; this significantly increases risk of secondary malignancies and contraindicates radiation therapy in most clinical scenarios.

Multiple odontogenic keratocysts are present in 75-90% of Gorlin syndrome patients and often develop in the second decade of life; they are the second most common manifestation after basal cell carcinomas and carry risk of recurrence and malignant transformation.

Medulloblastoma occurs in ~5% of Gorlin syndrome patients (predominantly males) and warrants surveillance brain MRI; this represents a significant cause of morbidity and mortality in pediatric Gorlin syndrome patients.

The syndrome shows complete penetrance but variable expressivity; approximately 35-50% of cases arise from new mutations, making family history negative in many cases; genetic counseling and molecular confirmation are recommended for diagnosis.

Reporting Pearls

When reporting Gorlin syndrome features, specifically state: "Multiple odontogenic keratocysts in the mandible and maxilla consistent with syndrome-associated lesions; bilamellar calcification of the falx cerebri is present, a highly specific finding; bifid ribs noted" — use the conjunction of multiple features to strengthen the syndromic diagnosis rather than reporting isolated findings without synthesis.

Pitfalls

Interpreting solitary odontogenic keratocysts as sporadic rather than syndromic; any patient presenting with multiple OKCs warrants Gorlin syndrome screening with attention to falcial calcification, rib anomalies, palmar pits, and BCC history.
Missing bilamellar falcial calcification on CT head because it is subtle; careful review of the midline on bone windows is necessary, as this single finding may be sufficient for major criterion and push the patient toward syndromic diagnosis.
Overlooking bifid ribs or other rib anomalies on chest imaging; these are often clinically silent and require high suspicion, particularly in patients with early-onset or multiple basal cell carcinomas.
Failing to recognize radiation hypersensitivity and inadvertently exposing Gorlin syndrome patients to ionizing radiation during diagnostic imaging or treatment planning; cumulative radiation exposure significantly elevates secondary malignancy risk and should be avoided when possible.

Gorlin-Goltz syndrome,

Key Images

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