中国家族性良性慢性天疱疮临床和遗传学研究分析

Analysis of clinical and genetic characters of patients with Hailey-Hailey disease in China

目的:了解中国已报道的家族性良性慢性天疱疮(HHD)临床与遗传学的特征。方法:利用CNKI、NCBI数据库结合手工检索1962～2006年底的相关文献,总结中国HHD有关临床特点及遗传学特点。结果:(1)据不完全统计在此期间中国共报道HHD病人430例,男女比例约2:1;发病年龄3天～73岁。多数患者表现为典型的HHD特征,少数表现不典型,如4例表现为仅累及会阴、1例单侧躯体受累呈线状排列、6例泛发全身、4例合并其它疾病。(2)中国HHD致病基因ATP2C1基因共检测到26种不同的突变位点,其中22种是未报道的,有部分HHD患者未检测到突变。(3)尚未发现临床表型与基因型间的关系。结论:皮肤科医生需了解HHD不典型表现。HHD的致病基因有待进一步深入研究。

Objective： To determine the characteristics of both clinical manifestations and genetic mutations of Chinese patients with Hailey- Hailey disease. Methods： Reports on Chinese HHD patients in available literatures were reviewed and analyzed. Results： （ 1 ） Report of 430 eases of HHD was identified. The age at onset of the clinical disease ranged from three days to 73 - years, with a male to female ratio of 2： 1. In addition to the typical clinical manifestations of HHD, a few eases manifested as atypical characteristics including 4 patients with only perineum involvement, one patient with unilaterally linear lesion, 6 patients with widespread lesions and 4 patients complicated with the other diseases. （2） Twenty - six mutations were detected. Of these 22 mutations were novel. （3） No clear relationship was confirmed between the mutation spots and the clinical phenotype of HHD. Conclusion： （ 1 ） Dermatologists should be aware the variety of the chnical features of HHD, （2）Genetic research on HHD is needed in future to find out if there exist a relationship between the genotype and the phenotype.