Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a wide range of clinical signs and symptoms. The major criteria for the diagnosis are multiple cutaneous basal cell carcinomas, multiple odontogenic keratocysts of the jaw, palmar and plantar pits, and skeletal abnormalities. Here, we report an unusual case of NBCCS in a 68-year-old woman with late onset of clinical signs and symptoms and with an associated ameloblastoma. Only 4 other cases of this unusual association have been reported.
Eslami
Behnam
B
Department of Oral Medicine, Infection, and Immunity, Harvard School of Dental Medicine, Boston, MA, USA.
Lorente
Carol
C
Kieff
David
D
Caruso
Paul A
PA
Faquin
William C
WC
D000368:Aged; D000564:Ameloblastoma / Q000209:etiology*; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000235:genetics; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007573:Jaw Neoplasms / Q000150:complications* / Q000235:genetics; D008441:Maxillary Neoplasms / Q000209:etiology*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface