McGrath J A, Schofield O M, Eady R A
Department of Cell Pathology, St John's Institute of Dermatology, St Thomas' Hospital, London, U.K.
Br J Dermatol. 1994 May;130(5):617-25. doi: 10.1111/j.1365-2133.1994.tb13109.x.
We report a study of eight unrelated adult patients with a highly distinctive phenotype of dystrophic epidermolysis bullosa. It is characterized clinically by pruritus, lichenified or nodular prurigo-like lesions, violaceous linear scarring, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and, in some cases, albopapuloid lesions on the trunk. The scarring is most evident on the limbs, particularly on the shins, with relative sparing elsewhere. Intact blisters are rarely seen. Physical signs were present at birth in three patients, but in the others skin manifestations were first noticed between 6 months and 10 years of age. Five cases are sporadic, but three of the eight patients have a history of familial involvement, with autosomal dominant inheritance in two cases and recessive transmission in the other case. Studies of the dermal-epidermal junction showed alterations in the number and ultrastructure of anchoring fibrils in lesional, perilesional and non-lesional skin, consistent with a diagnosis of dominant or localized recessive dystrophic epidermolysis bullosa. These patients represent an unusual, poorly recognized form or expression of dystrophic epidermolysis bullosa which has features in common with a variety of acquired inflammatory dermatoses.
我们报告了一项对八名无亲缘关系的成年营养不良性大疱性表皮松解症患者的研究。其临床特征为瘙痒、苔藓化或结节性痒疹样皮损、紫红色线性瘢痕、偶尔因外伤引起的水疱、抓痕、粟丘疹、甲营养不良，部分患者躯干有白色丘疹样皮损。瘢痕在四肢最为明显，尤其是小腿，其他部位相对较轻。完整的水疱很少见。三名患者出生时即有体征，但其他患者的皮肤表现首次出现在6个月至10岁之间。五例为散发性，但八名患者中有三例有家族病史，其中两例为常染色体显性遗传，另一例为隐性遗传。对真皮-表皮连接处的研究显示，病变皮肤、病变周围皮肤和非病变皮肤中锚定原纤维的数量和超微结构均有改变，符合显性或局限性隐性营养不良性大疱性表皮松解症的诊断。这些患者代表了一种不常见、认识不足的营养不良性大疱性表皮松解症形式或表现，具有与多种后天性炎症性皮肤病相同的特征。
