Head and Neck Department, Operative Unit of Maxillo-Facial Surgery and Otolaryngology, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Puglia, Italy.
Department of Clinical Medicine and Surgery, University of Naples Federico II School of Medicine and Surgery, Naples, Campania, Italy.
BMJ Case Rep. 2021 May 11;14(5):e242459. doi: 10.1136/bcr-2021-242459.
Dyskeratosis congenita is a rare disease caused by telomerase dysfunction classically characterised by the triad: skin pigmentation, nail dystrophy and mucosal leukoplakia. Few cases are described in literature regarding patients with head and neck squamous cell carcinoma affected by dyskeratosis congenita, and the therapeutic decisions are not yet well defined. A review of the literature of the last 20 years (2001-2021) was performed, and it was analysed the case of a 38-year-old male patient affected by dyskeratosis congenita diagnosed with a squamous cell carcinoma of the inferior alveolar ridge, treated with surgery. The absence of complications and the good postoperative recovery of the patient comfort in saying that resection and reconstructive surgery can be safely performed. The occurrence of disseminated disease 6 months after the treatment warns about the extreme aggressiveness of the pathology, its often systemic nature and the necessity of a multidisciplinary approach as well as further studies.
先天性角化不良是一种罕见的疾病，由端粒酶功能障碍引起，其特征为三联征：皮肤色素沉着、指甲营养不良和黏膜白斑。文献中很少有关于患有先天性角化不良的头颈部鳞状细胞癌患者的描述，治疗决策尚不清楚。对过去 20 年（2001-2021 年）的文献进行了回顾，并分析了一名 38 岁男性患者的病例，该患者患有先天性角化不良，被诊断为下颌牙槽嵴鳞状细胞癌，接受了手术治疗。患者无并发症，术后恢复良好，这表明切除和重建手术可以安全进行。治疗后 6 个月出现播散性疾病，这表明该疾病具有极强的侵袭性、通常为系统性、需要多学科方法以及进一步研究。
