ER stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa.
ER stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa.
复制标题
胫前营养不良性大疱性表皮松解症发病机制中的 ER 应激。
DOI：
10.1111/bjd.15342
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
and Ishikawa O.
中科院分区：
文献类型：
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作者：
Hattori M;Shimuzu A;Oikawa D;Kamei K;Kaira K;Ishida-Yamamoto A;Nakano H;Sawamura D;Tokunaga F;and Ishikawa O.
亲爱的编辑：营养不良性大疱性表皮松解症是一种罕见的遗传性疾病，其特征是皮肤起水泡和结疤。1它是由COL7A1基因突变引起的，COL7A1基因编码II型胶原(C7)。胫前显性营养不良性大疱性表皮松解症(DDEB-PT)是DDEB的一个亚型，主要影响胫前区域。虽然已经报道了几例由COL7A1突变引起的DDEB-PT病例，但2-4其病理生理机制仍不清楚。在此，我们报告了一例迟发性DDEB-PT患者，在COL7A1基因的三螺旋区域有一个新的Gly1788替换为Glu。我们进行了体外研究，以阐明DDEB-PT的病理生理机制。患者是一名41岁的女性，有3年的反复瘙痒和小腿起泡的病史。体检
DEAR EDITOR, Dystrophic epidermolysis bullosa is a rare hereditary disease characterized by blistering and scarring of the skin. 1 It is caused by mutations in the COL7A1 gene, which codes type VII collagen (C7). Pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt) is a subtype of DDEB that predominantly affects the pretibial region. Although several cases of DDEB-Pt caused by mutations of COL7A1 have been reported, 2–4 the pathophysiological mechanism remains unknown. Herein we report a patient with late-onset DDEB-Pt with a novel substitution of Gly1788 with Glu in the triple-helical domain of the COL7A1 gene. We carried out in vitro studies to elucidate the pathophysiological mechanism underlying DDEB-Pt. The patient was a 41-year-old woman with a 3-year history of recurrent itching and blistering on the shin. A physical