Matsuo Mioko, Rikimaru Fumihide, Higaki Yuichiro, Masuda Muneyuki
Nihon Jibiinkoka Gakkai Kaiho. 2014 Jun;117(6):815-20. doi: 10.3950/jibiinkoka.117.815.
Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.
基底细胞痣综合征是一种常染色体显性疾病,其特征为发育畸形及其致癌性。该综合征表现出多种症状,包括多发性皮肤基底细胞癌、角化囊肿性牙源性肿瘤以及骨骼和皮肤的先天性异常。尽管基底细胞痣综合征本身是一种罕见疾病,但我们遇到了一例非常罕见的病例,即发生了口腔鳞状细胞癌,而非皮肤基底细胞癌。英文文献中仅报道了4例类似病例。患者为一名33岁女性。她在我院被诊断为硬腭鳞状细胞癌和基底细胞痣综合征。该患者接受了硬腭鳞状细胞癌手术,并进行了术后放化疗。由于该综合征患者在接受X线辐射时易形成基底细胞癌,我们在放疗时格外小心。