硬化疗法治疗家族性弥散性皮肤肾小球静脉畸形一例报告

F. Gil, S. Ortiz, J. Aranha
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引用次数: 0

摘要

肾小球静脉畸形通常表现为皮肤或皮下的软蓝紫色丘疹、结节或斑块,也可能是散发性或遗传性病变。我们提出的情况下,41岁的女性,提到评估播散蓝色病变发展自青春期。组织病理学与肾静脉畸形的诊断一致。一位患有类似病变的姐妹的病史证明了对肾小球蛋白基因的遗传研究的合理性,该基因揭示了一种致病性突变变异,从而可以诊断家族性弥散性皮肤肾小球静脉畸形。尽管手术治疗通常用于症状性肾小球静脉畸形的孤立病变,但其他治疗方式已被报道用于治疗多发性病变,结果不一。患者接受poly - canol硬化治疗,6个疗程后症状和外观均有明显改善,无不良反应,6个月后无复发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Glomuvenous malformations usually present as soft bluish-purple dermal or subcutaneous papules, nodules or plaques, and can occur as sporadic or inherited lesions. We present the case of a 41-year-old female, referred for evaluation of disseminated bluish lesions developing since puberty. Histopathology was consistent with the diagnosis of glomuvenous malformations. The history of a sister with similar lesions justified a genetic study of the glomulin gene that revealed a pathogenic mutational variant allowing thediagnosis of familial disseminated cutaneous glomuvenous malformations. Whereas surgical management is often used for symptomatic solitary lesions of glomuvenous malformations, other treatment modalities have been reported for treatment of multiple lesions, with variable results. The patient underwent sclerotherapy with polidocanol and there were significant symptomatic and cosmetic improvements after six sessions, with no adverse effects and no recurrence after 6 months.
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