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慢性腿部溃疡作为营养不良性大疱性表皮松解症首次诊断的罕见病因。

Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica.

作者信息

Bafaraj Mazin G, Cesko Elvir, Weindorf Maren, Dissemond Joachim

机构信息

Department of Dermatology, University Hospital of Essen, Essen, Germany.

出版信息

Int Wound J. 2014 Jun;11(3):274-7. doi: 10.1111/j.1742-481X.2012.01087.x. Epub 2012 Sep 13.

DOI:10.1111/j.1742-481X.2012.01087.x
PMID:22974048
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7950492/
Abstract

Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases. The following case report presents chronic leg ulcers as a rare cause for the first diagnosis of dystrophic epidermolysis bullosa. We report about a 21-year-old man with painful chronic leg ulcers resistant to different wound treatments for 4 months. After exclusion of the more common vascular aetiologies and reviewing the patient's family history, we considered an epidermolysis bullosa dystrophica which could be confirmed by genetic analyses. We treated the patient with debridement, modified negative pressure therapy with non-adhesive foil and skin grafting. The chronic leg ulcers healed completely. This case report demonstrates that the family history and genetic diseases should be considered as rare causes for therapy-refractory chronic leg ulcers, especially in young patients.

摘要

慢性腿部溃疡在老年人群中最为常见,是由潜在的血管疾病尤其是慢性静脉功能不全引起的。但由于其他病因,如感染、血管炎、肿瘤或遗传性疾病,在年轻人中也较少见。以下病例报告介绍了慢性腿部溃疡作为营养不良性大疱性表皮松解症首次诊断的罕见原因。我们报告了一名21岁男性,患有疼痛性慢性腿部溃疡,对不同伤口治疗方法均无效,持续了4个月。在排除了更常见的血管病因并查阅患者家族史后,我们考虑为营养不良性大疱性表皮松解症,这可通过基因分析得到证实。我们对患者进行了清创、使用非粘性箔片的改良负压治疗和皮肤移植。慢性腿部溃疡完全愈合。本病例报告表明,家族史和遗传性疾病应被视为治疗难治性慢性腿部溃疡的罕见原因,尤其是在年轻患者中。

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Int Wound J. 2014 Jun;11(3):274-7. doi: 10.1111/j.1742-481X.2012.01087.x. Epub 2012 Sep 13.
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本文引用的文献

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Etiology of chronic leg ulcers in 31,619 patients in Germany analyzed by an expert survey.德国一项专家调查分析的 31619 例慢性腿部溃疡的病因。
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[Epidermolysis traumatica, regionally over both tibiae leading to atrophy, with dominant inheritance].[创伤性表皮松解症,累及双侧胫骨区域导致萎缩,呈显性遗传]
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Arch Dermatol. 1995 Sep;131(9):990-2. doi: 10.1001/archderm.131.9.990.
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Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique.应用定量超微结构技术评估营养不良性大疱性表皮松解症中真皮-表皮连接处的锚原纤维及其他成分
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Pretibial epidermolysis bullosa. Successful therapy with a skin graft.胫前大疱性表皮松解症。皮肤移植治疗成功。
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Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.隐性营养不良型大疱性表皮松解症与VII型胶原蛋白基因的遗传连锁。
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