THE combination of multiple basal-cell carcinomas, cysts of the jaw, and skeletal deformities forms an uncommon disorder often referred to as the basal-cell nevus syndrome. The condition can be recognized in early childhood and is thought to be inherited as a highly penetrant, autosomal dominant gene with multiple and variable effects.1 Cases have been described with scoliosis, prominent frontal bosses, short metacarpal bones, nasal deformity, agenesis of the corpus callosum, calcification of the falx cerebri, medulloblastoma, mental changes, hypertelorism, gonadal dysplasia, milia, and dyskeratosis of the palms and soles.2-10 It has recently been suggested that this syndrome may be a variant of pseudohypoparathyroidism because of (1) certain gross similarities, including body habitus, short metacarpal bones, ectopic calcification, and mental abnormalities, and (2) the failure to respond to infusions of parathyroid hormone with a phosphorus diuresis.8,9
We have studied a boy with multiple basal-cell carcinomas and bone defects.
JONES JE, DESPER PC, WELTON WA, FLINK EB. The Nevoid Basal-Cell Carcinoma Syndrome. Arch Intern Med. 1965;115(6):723–729. doi:10.1001/archinte.1960.03860180095018
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: