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多发性双侧 Blaschko 线相关性 Grover 病:一种罕见的临床表型,结合遗传学与电子显微镜分析。

Grover's disease following multiple bilateral Blaschko lines: a rare clinical presentation with genetic and electron microscopic analyses.

机构信息

Department of Dermatology, National Hospital Organization, Sagamihara National Hospital, Sagamihara, Japan.

出版信息

Dermatology. 2012;225(2):183-7. doi: 10.1159/000343172. Epub 2012 Oct 12.

Abstract

Grover's disease is an acquired dermatosis of unknown cause histopathologically characterized by the presence of acantholysis. We report an 83-year-old Japanese man who showed multiple pruritic papular lesions distributed bilaterally along Blaschko lines, necessitating the exclusion of segmental Darier's disease. No mutations in ATP2A2, ATP2C1 or keratin 5 genes were found both in the lesional skin and in peripheral leukocytes, suggesting that putative pathogenesis of Grover's disease is distinct from those of other acantholytic dermatoses. Electron microscopy revealed poorly developed tonofibrils in the basal cells, and the structure of desmosomes appeared normal, with an increase in the number of desmosomes in the spinous layer, indicating compensation of defective desmosomal function. Impairment of desmosomal plaque proteins linking tonofilaments to desmosomal cadherins may thus account for acantholysis. The unusual bilateral mosaic arrangement in our patient may offer valuable clues to the genetic basis of Grover's disease.

摘要

Grover 病是一种获得性皮肤病,其病因不明,组织病理学特征为棘层松解。我们报告了一例 83 岁的日本男性患者,他表现为双侧沿 Blaschko 线分布的多发性瘙痒性丘疹性病变,需要排除节段性 Darier 病。在皮损皮肤和外周血白细胞中均未发现 ATP2A2、ATP2C1 或角蛋白 5 基因的突变,提示 Grover 病的潜在发病机制与其他棘层松解性皮肤病不同。电子显微镜显示基底细胞中的张力原纤维发育不良,桥粒结构正常,但棘状层中的桥粒数量增加,表明桥粒功能缺陷得到了代偿。因此,桥粒斑蛋白连接张力原纤维和桥粒钙黏蛋白的功能障碍可能导致棘层松解。我们的患者中这种不寻常的双侧镶嵌排列可能为 Grover 病的遗传基础提供有价值的线索。

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