头颈部Ⅰ型神经纤维瘤病23例临床分析

Neurofibromatosis type Ⅰ of the head and neck:clinical analysis of 23 cases

目的探讨头颈部Ⅰ型神经纤维瘤病(NF-Ⅰ)的临床特点、诊断及治疗。方法对两个医院近20年来收治的23例头颈部NF-Ⅰ患者的临床资料进行分析。结果23例患者中位年龄21岁,男女之比3∶4。颈部12例、口腔内5例、颧部2例、颞部1例、睑额顶部1例、翼腭凹及下颌骨各1例;除了牛奶咖啡斑及皮肤赘瘤两大特征外,1例有枕骨缺损、1例有颈椎后凸畸形,1例瘤体自发性大出血死亡,1例恶变,2例合并血管外皮肉瘤、2例有颅内占位病变、1例伴有垂体瘤且智力低下。17例有详细家族史记载的5例有遗传史,其中1例父亲及同胞4人均有不同程度的临床表现。结论NF-Ⅰ是一种常染色体显性遗传性疾病,病程长,青春期为主要就诊年龄段。临床表现形式多样,恶变及自发性大出血应引起重视。手术仍为主要治疗手段,减少术中出血及提高修复水平是保证手术质量的关键。

Objective To study the clinical characteristic, diagnosis and surgical procedures of neurofibromatosis type Ⅰ （NF-Ⅰ） in the head and neck. Methods The clinical data of 23 cases of NF- Ⅰ in the head and neck were collected and analyzed. Results The median age of 23 cases was 21 year-old, and the ratio of male to female in this group was 3/4. 12 tumors were located in cervicum, 5 in oral cavity, 3 in face and 1 each in eyelid-forehead, mandibular bone and pterygopalatina fossa. In addition to milk coffee maculae and skin neoplasm, the complications of occipital bone defect （1）, back forward prominence abnormity in cervical vertebrae （1）, canceration （1）, angio-crust sarcoma （1）, intracranial occupying lesion（2）, hypophysoma with mental retardation（1） and a death case of spontaneous hemorrhea resulting from cervical part tumor break were found. 5 of 17 cases had detail records of family hereditary history. 1 case of which had different degree of clinical manifestation in his father and 4 brothers. Conclusion NF-Ⅰ is an autosome dominant heredity disease, which has long course and the main visit age is puberty. The clinical manifestation of NF-Ⅰ is variety. We should think highly of canceration and spontaneous hemorrhea of this disease. The main treatment is surgical procedure. The premise of guarantee the surgical treatment quality is decreasing hemorrhage during operation and elevating repair technique.