痒疹样营养不良型大疱性表皮松解症一家系调查

A Family with Dystrophic Epidermolysis Bullosa Pruriginosa

先证者女,18岁。躯干、四肢反复水疱、丘疹、结节伴痒6年。皮肤科情况:双下肢胫前多发密集米粒至花生米大小扁平丘疹、结节,色泽淡红至暗红,部分呈脐样凹陷,上覆白色糠状鳞屑,见点状糜烂、结痂;躯干及双上肢散在粟粒至黄豆大小淡白色、淡红色丘疹及萎缩性疤痕,部分皮损表面糜烂、结痂;指趾甲及黏膜未见受累。皮损组织病理示:角化过度,颗粒层、棘层中度不规则增厚,表皮下见裂隙及大疱,真皮浅层毛细血管扩张,血管内皮细胞及纤维组织明显增生,血管周围少许淋巴细胞浸润。诊断:痒疹样营养不良型大疱性表皮松解症。家系调查4代39人,共有24人患病,每代均有发病,其中男17人、女7人患病,符合常染色体显性遗传。

The proband was an 18 year-old girl, repeatedly presented with a 6-year history of pruritic vesicles, papules and nodules on her trunk and limbs. On examination, the physical signs on the shins consisted of pap- ules, nodules, erosions, scales and crusts. All the papules and nodules were red, oblate and about 2 ~ 10ram in diameter, taking the form of multiple prurigo-like lesions, partly with appearance of hilar depression. Extensive albopapuloid lesions and atrophic scars were distributed discretely on the trunk and upper limbs. Erosions and crusts could also be seen. Apart from the skin changes, there was no significant prob- lems with her fingernails, toe nails and mucosa. Histopathology of the skin lesion revealed hyperkeratosis, hypergranulosis and acanthosis, as well as subepidermal cleft and blister, dermal fibrosis, telangiectasia, and mild perivascular lymphohistiocytic inflammatory cell infiltrate in the upper dermis. The case was finally diagnosised as dystrophic epidermolysis bullosa pruriginosa. Four generations including 39 members in this pedigree were investigated. The result showed that 24 members from each generation 17 males and 7 females were from the disease. The inheritance pattern exhibited the characteristics of autosomal dominant inheritance.