CAJ | 학술논문

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.
보고1례양진양영양불량형대포성표피송해증,병진행료가계조사.선증자남,26세.환자1세좌우시쌍과부출현수개수포,쌍경전피부재외상、소조후형성원형혹란원형구진、결절,미립지화생미대,암홍색,질지교경,부분피손표면유가각.쌍족다개지갑증후혹탈실.피손조직병리검사:다처표피하렬극형성,진피내산재교다적표피양낭종,병유소량림파세포침윤.해가계공4대30명성원,14인환유본병(남9례,녀5례),속상염색체현성유전.
A case of dystrophic epidennolysis 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 subepidennal fissures,small epidermoid cysts in the dermis,and a few lymphocyte infiltration 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.