Shan Ying, Zuo Ya-Gang
Department of Dermatology,State Key Laboratory of Complex Severe and Rare Diseases,PUMC Hospital,CAMS and PUMC, National Clinical Research Center for Dermatologic and Immunologic Diseases,Beijing 100730,China.
Graduate School,Hebei North University,Zhangjiakou,Hebei 075000,China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2022 Apr;44(2):227-235. doi: 10.3881/j.issn.1000-503X.14761.
Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(=0.234,=0.023),palmoplantar keratoderma(=0.325,=0.001),webbing/pseudoainhum(=0.247,=0.016),dysphagia(=0.333,=0.001),urethral stricture(=0.280,=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(=11.292,=0.001)and anal stenosis(=4.014,=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
目的 探讨Kindler综合征（KS）的临床特征及基因突变情况，为KS的诊断与治疗提供理论依据。方法 收集北京协和医院1例KS患者的临床资料及文献报道的185例患者资料，对基因突变类型、患者临床资料及肿瘤特征进行统计分析。结果 共纳入186例患者，其中男性110例，女性76例，平均年龄（28±16）岁。分别有151例和94例患者有基因突变数据及特定临床表现数据。KS的主要临床表现包括皮肤异色症、儿童期水疱发生及光敏性，次要临床表现包括口腔炎症、掌跖角化病、蹼状/假性并指、吞咽困难、尿道狭窄等。口腔炎症（=0.234，=0.023）、掌跖角化病（=0.325，=0.001）、蹼状/假性并指（=0.247，=0.016）、吞咽困难（=0.333，=0.001）、尿道狭窄（=0.280，=0.006）与年龄显著相关，在32岁以上患者中发生率显著更高。尿道狭窄（=11.292，=0.001）和肛门狭窄（=4.014，=0.045）与性别显著相关，男性发生率更高。151例患者中发现80种不同突变，最常见的基因突变是c.676C>T。27例患者发生41处肿瘤，其中鳞状细胞癌占92.7%。基因突变位点与鳞状细胞癌或患者所在国家无显著相关性。结论 FERMT1基因中的c.676C>T是KS最常见的突变。患者易患鳞状细胞癌，主要侵袭暴露部位（手和口）。
