Nevoid basal cell carcinoma syndrome: clinical presentation, diagnosis, and management in a pediatric patient

Abstract

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a hereditary condition caused by mutations in the PTCH gene, leading to multiple basal cell carcinomas on the skin, odontogenic keratocysts, intracranial calcifications, and anomalies of the ribs and vertebrae. A 10-year-old girl presented with maxillary and mandibular unicystic radiolucent lesions, a family history of cutaneous tumors, and physical characteristics such as palmoplantar depressions, hypertelorism, and bifid ribs. Incisional biopsy of the maxillary lesions revealed cysts lined with keratinized odontogenic epithelium with palisaded basal layer cells, diagnosed as keratocysts. Based on clinical features and complementary exams, the final diagnosis was NBCCS. Treatment involved the enucleation of keratocysts and peripheral ostectomy. The patient is under constant follow-up. Genetic counseling is crucial in NBCCS. Due to its impacts on various organs, treatment requires a multidisciplinary team and continuous monitoring. Early diagnosis is essential for screening neoplasms and reducing the morbidity associated with basal cell carcinomas.