[Basal cell nevus syndrome: the interface between dentistry and dermatology].

Basal cell nevus syndrome is a rare, autosomal dominant disorder, predominantly caused by a mutation in the PTCH1 gene. As basal cell carcinomas and keratocysts are the most common abnormalities, dermatologists, orofacial maxillary surgeons, and dentists play a key role in patient care. From the age of 8, screening for odontogenic keratocysts with an orthopantomogram or MRI is recommended every other year.

A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).

 E. Epstein. Br J Dermatol 2022; 186:203.

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome.

Basal cell naevus syndrome (BCNS) is associated with germline mutations in the PTCH1 gene. Postzygotic mosaicism can also cause BCNS. Here we describe two patients, one with multiple basal cell carcinomas (BCCs) and one with clinical BCNS, who had no PTCH1 mutation in DNA extracted from blood.