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罗特蒙德-汤姆森综合征患者的耐药性腿部溃疡。

Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.

机构信息

Department of Dermatology, Sisli Etfal Research and Training Hospital, Veysi Paşa sok. Yucekent sit E/16, Altunizade-Istanbul, Turkey.

出版信息

Int Wound J. 2010 Dec;7(6):531-5. doi: 10.1111/j.1742-481X.2010.00734.x. Epub 2010 Sep 21.

Abstract

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies. Data from the literature suggest that cutaneous findings of the syndrome include genetically programmed ageing changes and DNA repair abnormalities related to photosensitivity. Our patient is a 23-year-old male who presented with an unhealing ulcer for one and a half year on his left leg. Although he had received many various treatments, there had been no significant improvement during this period. We believe that this failure of healing might be to DNA repair abnormalities of fibroblasts. To our knowledge, this is the first case reported with coexistence of an unhealing ulcer without any findings of malignancy and RTS.

摘要

Rothmund-Thomson 综合征(RTS)是一种罕见的皮肤遗传病,其特征性皮肤改变包括萎缩、色素异常和毛细血管扩张、骨骼异常、身材矮小、青少年白内障以及皮肤和骨骼恶性肿瘤易感性。文献中的数据表明,该综合征的皮肤表现包括基因编程的老化改变和与光敏性相关的 DNA 修复异常。我们的患者是一名 23 岁男性,其左腿有一处未愈合的溃疡已达一年半。尽管他接受了多种不同的治疗,但在此期间病情并无明显改善。我们认为这种愈合失败可能与成纤维细胞的 DNA 修复异常有关。据我们所知,这是首例报告同时存在未愈合溃疡而无任何恶性肿瘤和 RTS 表现的病例。

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