William ’s syndrome associated with extensive infiltrative basal cell carcinoma

William ’s syndrome is a well-defined genetic disorder due to a microdeletion on chromosome 7. It is most commonly characterized by cardiovascular defects, electrolyte abnormalities, and abnormal facies. Cutaneous manifestations of this syndrome are uncommonly discussed in the literature, and its possible association with various basal cell carcinoma syndromes is even less well established. Specifically, the hereditary basal cell carcinoma syndromes that have a well-established genetic basis—nevoid basal cell carcinoma syndrome, xeroderma pigmentosum, Bazex-Dupre-Christol syndrome, and Rombo syndr ome—show no genetic correlation to William’s syndrome as none of them are due to any described mutations on chromosome 7.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research