Medenica-Mojsilović L, Fenske N A, Espinoza C G
Arch Dermatol. 1986 Aug;122(8):900-8. doi: 10.1001/archderm.1986.01660200072019.
We report the clinical and pathological features of an epidermolytic form of epidermolysis bullosa (EB) present in a family with six affected members that was transmitted in an autosomal dominant manner in four generations. The essential clinical features included generalized herpetiform blistering of the skin, mottled pigmentation and palmo-plantar hyperkeratosis, both punctate and diffuse. Biopsy material obtained from fresh blisters, clinically intact preblistering skin, hyperkeratotic areas, and skin with mottled pigmentation was examined by light and/or electron microscopy. In addition to reporting a heretofore undescribed association of EB herpetiformis with mottled pigmentation and punctate keratoderma, we report previously undescribed histologic changes in the areas of punctate hyperkeratosis. Specifically, the unique histologic findings consisted of the presence of dyskeratotic cells with clear cytoplasm at the cellular periphery, parakeratosis, and involvement of the intradermal portion of the sweat duct. The possibility that these findings represent a new type of epidermolytic EB, rather than a variant of other types of epidermolytic EB, particularly EB herpetiformis or EB with mottled pigmentation, is discussed.
我们报告了一个大疱性表皮松解症（EB）表皮松解型的临床和病理特征，该家系中有6名患者，以常染色体显性方式在四代人中传播。主要临床特征包括全身性疱疹样皮肤水疱、斑驳色素沉着以及掌跖部点状和弥漫性角化过度。对取自新鲜水疱、临床上完整的水疱前皮肤、角化过度区域以及有斑驳色素沉着皮肤的活检材料进行了光镜和/或电镜检查。除了报告一种此前未描述的疱疹样EB与斑驳色素沉着和点状角皮病的关联外，我们还报告了点状角化过度区域此前未描述的组织学变化。具体而言，独特的组织学发现包括细胞周边有胞质透明的角化不良细胞、角化不全以及汗腺导管真皮部分受累。文中讨论了这些发现代表一种新型表皮松解性EB的可能性，而非其他类型表皮松解性EB的变体，特别是疱疹样EB或有斑驳色素沉着的EB。
