Vol.97 No.10 contentsPRACTICA OTO-RHINO-LARYNGOLOGICA
Vol. 97 No.10 October 2004
Two Cases of Nevoid Basal Cell Carcinoma Syndrome
Mizuho Yagisawa and Yasunori Sakuma
(Yokohama City University Medical Center)
Hiroko Kagata
(Shakaihoken Sagamino Hospital)
Mamoru Tsukuda
(Yokohama City University Graduate School of Medicine)
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by odontogenic keratocysts, palmar or plantar pits, ectopic calcification, and occurrence of various types of tumors, including multiple basal cell carcinoma. NBCCS is caused by mutations in the patched gene (PTCH), and shows a homologous type of the Drosophilia segment polarity gene (Ptch). PTCH is a tumor suppressor gene located at 9q22.3.
In this paper, two cases of NBCCS in one family, in a girl and her mother are presented. Case 1: An 18-year-old female complaining of painful swelling in the right mandible. CT revealed a cystic lesion in the right maxillary sinus and calcification of the falx cerebri and tentorium cerebelli. Radical operation of the maxillary sinus was performed. Histological examinations revealed odontogenic keratocyst. Case 2: A 48-year-old female, the mother of Case 1. Her CT revealed calcification of the falx cerebri and tentorium cerebelli. She had also dental cyst. The clinical features of these two cases met the proposed diagnostic criteria for NBCCS.
Key words : Nevoid basal cell carcinoma syndrome, odontogenic keratocyst, family history