Virtual Hospital: Radiology Resident Case of the Week: Gorlin Syndrome aka Basal Cell-Nevus Syndrome

Radiology Resident Case of the Week

Gorlin Syndrome aka Basal Cell-Nevus Syndrome

May 17, 1996

Dietrich Gerhardt
Peer Review Status: Not reviewed

Clinical Sx: A rare (600 cases) autosomal dominant syndrome characterized by multiple nevoid basal cell carcinomas, ondontogenic keratocysts, ocular abnormalities, medulloblastomas and other neoplasms, and a wide range of other anomalies. Patients present in childhood with seizures and characteristic cutaneous lesions.

Etiology/Pathophysiology:
Mapped to 9q chromosome.

Pathology:
Diagnosis requires 2 major or 1 major and 1 minor criteria. Major criteria : > 2 basal cell carcinoma < 30 years old, odontogenic keratocyst, palmar pits, falx calcification, family hx. Minor criteria : rib or vertebral anomalies, macrocrania, fibroma, medulloblastoma, lymphomesenteric cysts.

Miscellaneous:
Imaging:

DDx:

Key references:
Taybi H, Lachman R. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th ed. Mosby, St. Louis 1996.

ACR Code:
4.169

Keywords:
Gorlin syndrome; Basal cell-nevus syndrome; Medulloblastoma; Odontogenic keratocysts.

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