面部基底细胞癌为主的痣样基底细胞癌综合征1例  

A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma

作　　者：邱凤贞 雷少榕[1] 张力方 蒋旭蕾 左琛琛 QIU Fengzhen;LEI Shaorong;ZHANG Lifang;JIANG Xulei;ZUO Chenchen(Department of Plastic and Cosmetic Surgery,Xiangya Hospital,Central South University,Changsha 410008;Department of Plastic Surgery,Xi’an International Medical Center Hospital,Xi’an 710100,China)

机构地区：[1]中南大学湘雅医院整形美容外科,长沙410008 [2]西安国际医学中心医院整形科,西安710100

出　　处：《中南大学学报（医学版）》2022年第3期384-389,共6页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(81974297)。

摘　　要：痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)是一种罕见的常染色体显性疾病,其临床表现为多发性颌骨角化囊肿和基底细胞癌、儿童髓母细胞瘤及各种骨骼和软组织发育异常。2020年中南大学湘雅医院整形美容外科收治1例以面部基底细胞癌为主的NBCCS患者。该患者为老年女性,10年前出现全身特别是面部多发肿物,未予治疗。后肿物逐渐增大、增多,并表现出侵袭性。因鼻部肿物破溃化脓,严重影响患者的生活而就诊。鼻部肿物分泌物培养出金黄色葡萄球菌、雷氏普鲁威登菌。鼻腔鼻窦增强MRI示右侧面颊部皮下软组织及左侧鼻腔前外侧黏膜受侵,考虑为皮肤多发恶性病变。入院后行局部麻醉后手术切除部分肿物。肿物病理检查结果示基底细胞癌。后于全身麻醉下行全身多处肿物切除术,术后病理检查结果示多发性基底细胞癌,侵及真皮深层近皮下脂肪层,结合临床及免疫组织化学检查结果诊断为NBCCS;未见明确脉管内癌栓及侵犯神经现象。随访1年未发现复发及新发肿物。NBCCS发病率低,患者生活质量差,临床症状差异大,治疗方案需个体化且治疗时间长。Nevus-like basal cell carcinoma syndrome(NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma,child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient’ s life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient’ s nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected.The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient’ s life quality is poor and the patient needs long-term individualized treatment.

关 键 词：痣样基底细胞癌综合征 多发性颌骨角化囊肿 基底细胞癌 

分 类 号：R739.5[医药卫生—肿瘤]