A case of basal cell nevus syndrome was reported.
The patient, a 10-year-old boy, was referred to the Department of Oral and Maxillofacial Surgery, Nara Medical University, because of swelling at premola region in the left mandible.
X-ray examination showed radiolucent areas involving 3 and 4 at the left upper jaw and 3 at the left lower jaw.
General examination revealed increased cranial circumference, frontal bossing, broadened nasal root, ocular hypertelorism, fusion of eyebrows, synostosis of the fifth and sixth ribs on the right, palmar-plantar pits, spinal scoliosis, blue papule on the flexor surface of the left forearm and cryptorchism.
Histopathological diagnosis identified that the multiple jaw cysts were odontogenic keratocysts and the blue papule was epidermal cyst.
Chromosomal examination showed nothing unusual.
Further, repair function of UV-induced DNA damage was examined in order to explore the possibility that the multiple basal cell carcinoma may arise in the syndrome.
