Variable expressivity of the multiple nevoid basal cell carcinoma syndrome

Abstract

Four cases of multiple nevoid basal cell carcinoma syndrome are presented. No one component of the syndrome is present in all patients; instead, the many malformations associated with the syndrome have variable expressivity. The triad of jaw cysts, basal cell epitheliomas, and skeletal anomalies is well known, whereas other aspects, such as intracranial calcifications, hypertelorism, mental retardation, ectopic calcification, cleft lip and palate, cutaneous cysts, and palmar and plantar dyskeratosis, are more subtle and easily overlooked.