A syndrome characterized by multiple nevoid basal cell epitheliomas of the skin, cysts of the jaw, and congenital skeletal deformities has been studied and a series of new cases reported. Manifestations of the syndrome occur early in life, often in childhood, and there are definite familial or hereditary tendencies but no sex predilection. Some of the multiple basal cell tumors, which show areas of aggressive change and ulceration and demonstrate a wide range of histopathological basal cell patterns, could not be distinguished histologically from basal cell epitheliomas in patients without the syndrome. The cysts of the jaws are grossly destructive of bone and have not been found in any bones except the maxilla and mandible. The skeletal deformities include bifid and anomalous ribs, dorsal scoliosis, and frontal bosses.
Maddox WD, Winkelmann RK, Harrison EG, Devine KD, Gibilisco JA. Multiple Nevoid Basal Cell Epitheliomas, Jaw Cysts, and Skeletal Defects: A Clinical Syndrome. JAMA. 1964;188(2):106–111. doi:10.1001/jama.1964.03060280008002
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: