title: Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital.
abstract: Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.
authors.affiliation: Servicio de Dermatología, Hospital de Pediatría Dr. Prof. Juan P. Garrahan, Buenos Aires, Argentina. patriciasamela@gmail.com
authors.forename: P C
authors.initials: PC
authors.lastname: Samela
authors.forename: V
authors.initials: V
authors.lastname: Tosi
authors.forename: A B
authors.initials: AB
authors.lastname: Cervini
authors.forename: M
authors.initials: M
authors.lastname: Bocian
authors.forename: M M
authors.initials: MM
authors.lastname: Buján
authors.forename: A M
authors.initials: AM
authors.lastname: Pierini
mesh_terms: D000293:Adolescent; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005260:Female; D006776:Hospitals, Pediatric; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000175:diagnosis