痒疹样营养不良型大疱性表皮松解症两家系调查

目的：总结痒疹样营养不良型大疱性表皮松解症（DEBP）的临床病理及家系特点。方法：先证者的皮肤活检行组织病理和透射电镜检查，并对其家系进行实地调查。结果：家系1中8例患病，其中6例主要在小腿出现丘疹、结节，1例仅有甲营养不良，1例儿童在小腿发生水疱、糜烂、瘢痕。家系2中除先证者发生头皮毛囊炎、躯干白色丘疹样损害和小腿丘疹、结节外，3个姐姐仅有躯干白色丘疹样损害。小腿结节的组织病理检查显示表皮角化过度，棘层肥厚，表皮下裂隙形成，真皮浅层纤维组织增生、血管扩张，血管周围少数单个核细胞浸润。透射电镜检查发现水疱位于致密板下层，锚原纤维数量减少。结论：不同家族或家族内不同DEBP病例的临床表现差异较大，免疫荧光、透射电镜检查和突变分析可明确诊断。

Family Survey of Clinicopathologic Characteristics of Dystrophic Epidermolysis Bullosa Pruriginosa

Objective：To summarize the clinicopathologic features of dystrophic epidermolysis bullosa pruriginosa （DEBP）. Methods：Biopsy specimens of 2 probands with DEBP were detected by histopathology and transmission electron microscopy （TEM）, and pedigrees of these two patients were investigated. Results ： Eight patients were found in family No. 1 ; of whom, papules and nodules were found mainly on legs in 6 cases, onychodystrophy in 1 case, and blistering, erosion and scarring in a child. The proband in family No. 2 presented with folliculitis on the scalp, albopapuloid lesions on the trunk, and papules and nodules on the legs, but his 3 elder sisters only had the albopapuloid lesions on the trunk. Histopathology of the nodules on leg exhibited hyperkeratosis, acanthosis, and subepidermal cleft, as well as dermal fibrosis. Telangiectasiasand a mild perivascular infiltration of lymphohistiocytic cell were noticed in the papillary dermis. Results from TEM showed that the blister was formed beneath the lamina densa and anchoring fibrils decreased in number. Conclusion：Those patients exist obvious differences in interfamilial and intrafamilial phenotypes of DEBP. Definite diagnosis of DEBP is dependent on the immunofluorescence staining, TEM and mutational analysis.