多学科方法对长期多系统表现的未识别遗传性出血性毛细血管扩张患者的重要性。

IF 0.6 4区 医学 Q4 DERMATOLOGY Acta Dermatovenerologica Croatica Pub Date : 2022-09-01
Vesna Sredoja Sredoja Tišma, Ana Vlašić, Petar Gulin, Renata Huzjan Korunić
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引用次数: 0

摘要

遗传性出血性毛细血管扩张症(HHT),也称为Rendu-Osler-Weber综合征,是一种罕见的常染色体显性多系统血管疾病,以广泛的粘膜皮肤毛细血管扩张、频繁的内脏动静脉畸形(AVM)和出血倾向为特征。这种诊断应怀疑所有皮肤病患者的广泛性皮肤粘膜血管病变的偏爱部位,相关的频繁鼻出血和积极的家族史。本文的目的是强调多学科方法的重要性,皮肤科医生和耳鼻喉科医生在早期临床识别和诊断疾病中的作用和及时合作。我们报告一个63岁的家庭病例,具有典型的HHT临床特征和长期的多系统并发症。
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The Importance of a Multidisciplinary Approach in a Patient with Long-term Multisystemic Manifestations of Unrecognized Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT), also called Rendu-Osler-Weber syndrome, is a rare autosomal dominant multisystemic vascular disorder, characterized by widespread mucocutaneous teleangiectasias, frequent visceral arteriovenous malformations (AVM) and a tendency for bleeding. This diagnosis should be suspected in all dermatological patients with generalized mucocutaneous vascular lesions at sites of predilection, associated frequent epistaxis and a positive family history. The aim of this paper is to emphasize the importance of a multidisciplinary approach, the role and timely cooperation of dermatologists and otorhinolaryngologists in the early clinical recognition and diagnosis of the disease. We present a family case of a 63-year - old patient with typical clinical features of HHT and long-standing multisystemic complications of unrecognized disease.

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来源期刊
Acta Dermatovenerologica Croatica
Acta Dermatovenerologica Croatica 医学-皮肤病学
CiteScore
0.60
自引率
0.00%
发文量
23
审稿时长
>12 weeks
期刊介绍: Acta Dermatovenerologica Croatica (ADC) aims to provide dermatovenerologists with up-to-date information on all aspects of the diagnosis and management of skin and venereal diseases. Accepted articles regularly include original scientific articles, short scientific communications, clinical articles, case reports, reviews, reports, news and correspondence. ADC is guided by a distinguished, international editorial board and encourages approach to continuing medical education for dermatovenerologists.
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