Squamous cell carcinoma arising from Keratitis-ichthyosis-deafness syndrome.
Squamous cell carcinoma arising from Keratitis-ichthyosis-deafness syndrome.
复制标题
由角膜炎-鱼鳞病-耳聋综合征引起的鳞状细胞癌。
作者：
H. Mayama;T. Fujimura;Masayuki Asano;Y. Kambayashi;Y. Numata;S. Aiba
遗传性鱼鳞病是一种罕见的遗传性皮肤病，由表皮发育相关基因突变引起。角膜炎-鱼鳞病-耳聋（KID）综合征是一种使人衰弱的外胚层发育不良，除了导致出生时已存在的深度感觉性耳聋和红斑角化病外，还使患者易于发展为鳞状细胞癌（SCC）（1-5）。最近的报道提供了证据表明KID综合征是由连接蛋白26（Cx 26）突变引起的（2-5），连接蛋白26是一种间隙连接蛋白，由GJB 2编码，大多数患者携带D50 N突变（2-8）。有趣的是，以前的综述表明，KID综合征患者的错义D50 N突变与皮肤SCC的发展密切相关（1），尽管并非每个病例都会发生恶性肿瘤（6，7）。我们在此描述一例严重感染后KID综合征引起的大面积SCC。我们的报告还表明，严重的细菌感染可能是建立这种侵袭性皮肤癌的原因之一。病例报告
Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal develop-ment. Keratitis–ichthyosis–deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas (SCC) in addition to leading to profound sensory deafness and erythrokeratoderma already present at birth (1–5). Re-cent reports have provided evidence that KID syndrome is caused by a mutation of connexin 26 (Cx26) (2–5), a gap junction protein, encoded by GJB2, with the ma-jority of patients harbouring the D50N mutation (2–8). Interestingly, a previous review suggested that the mis-sense D50N mutation in patients with KID syndrome is strongly connected with the development of skin SCC (1), although not every case develops malignancies (6, 7). We describe here a case of large areas of SCC arising from KID syndrome after severe infection. Our report also suggests that severe bacterial infection might be one of the reasons for the establishment of this aggres-sive skin cancer. CaSe RepORt
影响因子：
9.8
作者：
Richard, G;Rouan, F;Russell, L
通讯作者：
Russell, L