Abstract
The main stigmata of the nevoid basal cell carcinoma syndrome (NBCCS) are developmental abnormalities, including palmar or plantar pits, bifid ribs, calcification of the falx cerebri, and a high susceptibility to several neoplasms, such as basal cell carcinomas of the skin, keratocystic odontogenic tumors (KCOTs) of the jaw, and medulloblastomas. NBCCS is a hereditary disorder caused by mutations in human patched-1 gene (PTCH1) and transmitted in an autosomal dominant manner. Three cases of NBCCS in a maternal relationship are reported. We analyzed the PTCH1 gene in 2 patients (siblings) and detected identical deletion mutations (germline mutations). In patients with NBCCS, the KCOT-causing mutation is usually inherited through the germline. Thus the susceptibility to KCOT is present in every cell of the body. Consequently, KCOT associated with NBCCS shows a trend toward multiplicity. The early detection of KCOT during follow-up using computed tomography and other diagnostic imaging techniques allowed minimally invasive surgical treatment and good outcomes.
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