慢性家族性良性天疱疮6个家系的临床特征与遗传特点分析

Clinical and Genetic Characteristics of Chronic Familial Benign Pemphigus (Hailey-Hailey disease) in Six Chinese Families

目的分析慢性家族性良性天疱疮(Hailey-Hailey disease,HHD)的临床表现和遗传学特征。方法对收集的6个HHD家系中患者的临床表型和家系遗传特点进行总结和分析。结果所有HHD家系符合常染色体显性遗传模式;患者发病年龄多见于青春期,好发于腹股沟、腋下、颈部等皱褶部位;典型临床表现为皱褶部位反复发生的水疱和糜烂;在同一家系中患者的临床表现度存在一定差异。结论 HHD同一家系存在不全外显遗传,且同一家系患者的临床严重程度和病情发展不尽相同。

Objective To investigate the clinical and genetic features of Hailey-Hailey disease （HHD）. Methods Clinical phenotypes and genetic characteristics from six HHD families were summarized and analyzed. Results Autosomal dominant inheritance was observed in all the HHD families. The age of onset in patients with HHD was mainly at puberty. Lesions commonly appeared on the flexural aspects of the body, such as groin, axilla, and neck folds. HHD was typically manifested by repeated ero- sions and blisters on the flexural parts of the body. The clinical manifestations of HHD were different among patients in the same pedigree. Conclusion HHD has in- complete penetrance, as a result, the severity and progression of the skin disease are not identical even in the same pedigree.