Tidman M J, Eady R A
J Invest Dermatol. 1986 Jan;86(1):51-6. doi: 10.1111/1523-1747.ep12283807.
In order to examine the claim for a numerical and structural abnormality of the hemidesmosomes in junctional epidermolysis bullosa (JEB), a morphometric analysis of unseparated dermal-epidermal junction was undertaken in 11 subjects with JEB. Of these, 5 died in infancy with "lethal" disease, 3 were children still alive at 1-6 years with "indeterminate" disease, and 3 were females aged 20-60 years with variable phenotypic expression of "nonlethal" JEB. All the lethal cases had reduced numbers of hemidesmosomes which were small and lacked normal subbasal dense plates, with the exception of 1 patient whose hemidesmosomes were structurally and numerically normal. The principal hemidesmosome abnormality in the 3 cases with indeterminate JEB was the absence of normal subbasal dense plates. In 2 of the 3 cases of nonlethal JEB, the hemidesmosomes appeared normal, whereas in the third patient they showed a similar abnormality to that present in the majority of the lethal group. These results demonstrate that JEB is an ultrastructurally heterogeneous condition, and suggest that, even though the hemidesmosome abnormalities may be of diagnostic value, they do not correlate sufficiently well with the clinical outcome to be useful as a prognostic indicator.
为了检验交界性大疱性表皮松解症（JEB）中半桥粒数量和结构异常的说法，对11例JEB患者未分离的真皮 - 表皮连接进行了形态计量分析。其中，5例在婴儿期死于“致死性”疾病，3例为1 - 6岁仍存活的患有“不确定型”疾病的儿童，3例为20 - 60岁具有“非致死性”JEB不同表型表达的女性。所有致死病例的半桥粒数量减少，体积小且缺乏正常的基底膜下致密板，但有1例患者的半桥粒在结构和数量上正常。3例不确定型JEB病例中半桥粒的主要异常是缺乏正常的基底膜下致密板。在3例非致死性JEB病例中的2例，半桥粒看起来正常，而在第3例患者中，它们表现出与大多数致死组相似的异常。这些结果表明，JEB是一种超微结构异质性疾病，并提示，尽管半桥粒异常可能具有诊断价值，但它们与临床结果的相关性不够好，不能作为预后指标。
