痒疹样营养不良型大疱性表皮松解症1例及家系调查

Dystrophic epidermolysis bullosa pruriginosa:a case report and pedigree survey

报告1例痒疹样营养不良型大疱性表皮松解症,并进行了家系调查。先证者男,26岁。患者1岁左右时双踝部出现数个水疱,双胫前皮肤在外伤、搔抓后形成圆形或卵圆形丘疹、结节,米粒至花生米大,暗红色,质地较硬,部分皮损表面有痂壳。双足多个趾甲增厚或脱失。皮损组织病理检查:多处表皮下裂隙形成,真皮内散在较多的表皮样囊肿,并有少量淋巴细胞浸润。该家系共4代30名成员,14人患有本病(男9例,女5例),属常染色体显性遗传。

A case of dystrophic epidermolysis bullosa pruriginosa and the pedigree survey are reported. A 26-year-old male presented with a history of blisters and papules for 25 years. The proband initially had several vesicles at both ankles when he was one year old. Then, some round, ovoid, dark-red, rice-sized or pignut-sized papules and nodules gradually appeared on his anterior shins, ankles and elbows, usually induced by mild trauma or scratching, with several deformed toenails. Histology of skin lesions showed multiple subepiderrnal fissures, small epidermoid cysts in the dermis, and a few lymphocyte infihration in the dermis. The pedigree survey found 14 patients （9 males and 5 females） among 30 members in the 4 generations of the family. The other 13 patients exhibited the skin lesions similar to those of the proband.