Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families

• Published in: Oral radiology 2023-07, Vol.39 (3), p.518-527
• Main Authors: Castillo-Tobar, Angela, Urzúa, Blanca, Tirreau, Victor, Donoso, Francisca, Pinares, Jorge, Cosmelli-Maturana, Rodrigo, Ortega-Pinto, Ana
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Autosomal dominant inheritance; Basal cell carcinoma; Basal Cell Nevus Syndrome - diagnostic imaging; Basal Cell Nevus Syndrome - genetics; Cancer; Carcinoma; Carcinoma, Basal Cell; Chile; Dentistry; Humans; Imaging; Medicine; Minority & ethnic groups; Odontogenic Cysts - diagnostic imaging; Odontogenic Cysts - genetics; Odontogenic Tumors - diagnostic imaging; Odontogenic Tumors - genetics; Oral and Maxillofacial Surgery; Original Article; Radiology; Skin cancer; Skin Neoplasms
• ISSN: 0911-6028; 1613-9674
• DOI: 10.1007/s11282-022-00664-5

Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar–plantar pits among other conditions. Reports about Latin American population are scarce. Objective To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome. Material and methods After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done. Results Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups. Conclusions Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.