痒疹样营养不良型大疱性表皮松解症3例及其家系调查

Three cases of dystrophic epidermolysis bullosa pruriginosa and family pedigree survey

报告3例痒疹样营养不良型大疱性表皮松解症。例1.男,30岁。躯干及下肢反复水疱、丘疹、结节,指(趾)甲增厚、萎缩20余年。例2.男,30岁。指(趾)甲增厚、萎缩25年,躯干及四肢反复丘疹、结节、水疱15年。例3.女,3个月余,系例2的女儿。双手、足起水疱3个月余。例1与例2均经临床表现、组织病理学检查及直接免疫荧光确诊为痒疹样营养不良型大疱性表皮松解症。例3因年龄原因未行组织病理学检查。例1家系4代成员中无类似疾病。例2和例3家系4代12人中有4人患该病,男2例,女2例,连续4代每代均有1例患者。

Three cases of dystrophic epidermolysis bullosa pruriginosa （DEB-Pr） are reported. The first case, a 30-year-old man presented with recurrent vesicles, papules and nodules on his trunk and lower limbs, nail thickening and atrophy for over 20 years. The second case was a 30-year-old man presenting with nail thickening and atrophy for 25 years, and recurrent papules, nodules, vesicles on his trunk and extremities for 15 years. The third case was a 3-month-old girl, the daughter of the second case, and had vesicles on her hands and feet since she was born. The first two cases were diagnosed as DEB-Pr based on clinical manifestations, histopathological features and direct immunofluorescence. The histopathology of the third case was not performed due to her age. The first patient had no family history of DEB-Pr in the 4 generations. In the 4 generations of patients 2 and 3, 4 of 12 family members （2 males and 2 females） suffered from DEB-Pr. Each generation had one patient.