Department of Otorhinolaryngology and Head and Neck Surgery, Kyushu Koseinenkin Hospital, 2-1-1, Kishinoura, Nishiku, Kitakyushu 806-8501, Japan.
Int J Clin Oncol. 2010 Aug;15(4):428-32. doi: 10.1007/s10147-010-0053-x. Epub 2010 Mar 4.
Dyskeratosis congenita (DC) is an inherited disorder that is characterized by the triad of skin pigmentation, nail dystrophy, and mucosal leukoplakia. Individuals with DC suffer from premature mortality because of bone marrow failure, pulmonary disease, or malignant transformation within the areas of mucosal leukoplakia, caused by telomerase dysfunction. We present a case of a 31-year-old Japanese man with DC who developed laryngeal cancer (supraglottic T4aN0M0). To avoid the serious risks of accelerating the DC-associated complications by DNA-damaging therapies, he was treated with a total laryngectomy plus right modified neck dissection (levels IB, IIA, III, and IV). A contralateral nodal metastasis appeared 4 months after initial surgery and was salvaged by a left radical neck dissection. Our strategy to spare DNA-damaging therapies has proven effective so far. This is the first reported case of laryngeal cancer in a patient with DC in the English-language medical literature.
先天性角化不良(DC)是一种遗传性疾病,其特征为皮肤色素沉着、指甲营养不良和黏膜白斑三联征。由于端粒酶功能障碍,DC 患者会因骨髓衰竭、肺部疾病或黏膜白斑区域的恶性转化而导致过早死亡。我们报告了一例 31 岁的日本男性 DC 患者,他患有喉癌(声门上 T4aN0M0)。为避免 DNA 损伤疗法加速 DC 相关并发症的严重风险,他接受了全喉切除术加右侧改良颈清扫术(水平 IB、IIA、III 和 IV)。初次手术后 4 个月出现对侧淋巴结转移,通过左侧根治性颈清扫术进行挽救。到目前为止,我们避免使用 DNA 损伤疗法的策略已被证明是有效的。这是英语医学文献中首例报道的 DC 患者喉癌病例。