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首页> 外文期刊>The Journal of dermatology >Case of dominant dystrophic epidermolysis foulfosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen
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Case of dominant dystrophic epidermolysis foulfosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen

机译：VII型胶原中c.7868G> A（G2623D）突变的占优势的营养不良性表皮皮肤性尿不良

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摘要

Dominant dystrophic epidermolysis bullosa pruriginosa (DDEB-pr; Online Mendelian Inheritance in Man 604129) is an unusual variant of DDEB characterized by recurrent intense pruritus and hypertrophic scarring. Several pathogenic mutations have thus far been detected within COL7A1 in DDEB. Here, we report a case of DDEB-pr with a c.7868G>A (G2623D) mutation within COL7A1. A 53-year-old man was referred to our clinic for evaluation of recurrent intense pruritus and hypertrophic scarring over both shins and elbows (Fig. 1) that had been present since the age of 12 years. He also had mild toenail dystrophy but fingernails remained normal. He had no past medical history of atopic dermatitis or any other type of dermatitis. He was single and was the only child. His mother had pruritus and hypertrophic scarring over both shins, but the lesions were milder. His grandparents did not have any past medical history of dermatitis.
机译：占主导地位的营养不良性表皮松解性大疱性瘙痒症（DDEB-pr;在线孟德尔遗传法，人604129）是DDEB的不寻常变体，其特征是反复发作的剧烈瘙痒和肥厚性瘢痕形成。迄今为止，已经在DDEB的COL7A1中检测到了几种致病突变。在这里，我们报告一例DDEB-pr在COL7A1中发生c.7868G> A（G2623D）突变的情况。一名53岁的男子被转诊至我们的诊所，以评估自12岁以来就出现的小腿和肘部反复剧烈瘙痒和肥厚性瘢痕（图1）。他还患有轻度的趾甲营养不良，但指甲仍然正常。他过去没有特应性皮炎或任何其他类型的皮炎的病史。他是单身，是唯一的孩子。他的母亲在两个胫骨上都有瘙痒和肥厚性瘢痕，但病变较轻。他的祖父母没有任何皮炎的病史。

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