泛发性家族性良性慢性天疱疮  

Generalized familial chronic benign pemphigus

作　　者：陆原 李清 李润琪 LU Yuan;LI Qing;LI Run-qi(Department of Dermatology, the Nanshan Affiliaied Hospital of Shenzhen University, Shenzhen 518052, China)

机构地区：[1]深圳大学附属南山医院皮肤科,广东深圳518052 [2]深圳大学医学部,广东深圳518052

出　　处：《临床皮肤科杂志》2019年第8期494-497,共4页Journal of Clinical Dermatology

摘　　要：报告1例泛发性家族性良性慢性天疱疮。患者男,49岁。反复发作全身瘙痒性皮损30余年,皮损表现为以躯干以及间擦部位为主的泛发性红斑或斑丘疹,以及在红斑或正常皮肤上出现的水疱。皮损组织病理检查示表皮内广泛的棘层松懈,并形成一种倒塌砖墙样外观。直接免疫荧光检查结果阴性。多处皮损脓液及皮损组织培养为金黄色葡萄球菌。家系调查示该家族13人中共有4人患此病。患者血液中检测到了杂合的ATP2C1基因错义突变。诊断:泛发性家族性良性慢性天疱疹。本病泛发临床上非常少见。A case of generalized chronic familial benign pemphigus is reported. A 49-year-old man presented with recurrent pruritic eruptions all over the body for more than 30 years. Generalized erythemas or maculopapules and vesicles were observed on the erythematous or normal skin, predominantly on the trunk and intertriginous areas. Histopathological examination showed extensive acantholysis, manifesting as dilapidated brick walls, in the epidermis. Direct immunofluorescence test showed negative for IgA and C3. Cultures of the pus and skin samples revealed a large number of Staphylococcus aureus. Four out of thirteen members in the family suffered from the same disease. A heterozygous missense mutation in the ATP2C1 gene was identified in this patient. The case was finally diagnosed as generalized chronic familial benign pemphigus. Generalized familial benign pemphigus is rare.

关 键 词：天疱疮 慢性 良性 家族性 泛发性 Hailey-Hailey病 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]