上顎骨歯原性角化囊胞を内視鏡下鼻内手術で摘出した母斑基底細胞癌症候群例

<p>Nevoid basal cell carcinoma syndrome (NBCCS) is a rare disease that was first reported by Gorlin in 1960. It is autosomal dominant disorder characterized by early appearance of multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. Herein, we report a patient who was definitively diagnosed as having NBCCS, in whom the odontogenic keratocysts were removed by endoscopic endonasal surgery (EES).</p><p>A 10-year-old boy was referred to our department for the treatment of a gradually enlarging odontogenic keratocyst of the left maxilla. CT and MRI examinations showed multiple cystic lesions in the maxilla and mandible. We performed EES on the left maxilla in consideration of the need to preserve the postoperative function. The keratocyst in the maxillary sinus was removed completely by EES, and the oral surgeon removed the residual lesion in the left maxillary bone from the oral cavity. However, the post-procedure histopathology failed to reveal any keratocyst in the lesion removed from the left maxillary bone. The histopathological findings of the maxillary sinus lesion suggested a high risk of recurrence of the keratocyst. However, the postoperative course was favorable, with no recurrence of the keratocyst detected for 2 years after its removal.</p><p>Genetic testing is useful for confirming the diagnosis of NBCCS and predicting the prognosis of this condition. Since no genetic testing was performed in this case, repetitive imaging tests would be needed for a long period of time to detect not only recurrence but also new lesions. Total excision of an odontogenic keratocyst may be desirable because of the risk of development of carcinoma. EES may be useful for the treatment of keratocysts to prevent deterioration of the quality of life of the patient.</p>