دورية أكاديمية
Capillary Malformation-arteriovenous Malformation Type 2:A Case Report and Review
| العنوان: | Capillary Malformation-arteriovenous Malformation Type 2:A Case Report and Review |
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| المؤلفون: | Brix, Anna Trier Heiberg, Tørring, Pernille Mathiesen, Bygum, Anette |
| المصدر: | Brix , A T H , Tørring , P M & Bygum , A 2022 , ' Capillary Malformation-arteriovenous Malformation Type 2 : A Case Report and Review ' , Acta Dermato-Venereologica , vol. 102 , adv00662 . https://doi.org/10.2340/actadv.v102.1126Test |
| سنة النشر: | 2022 |
| المجموعة: | University of Southern Denmark: Research Output / Syddansk Universitet |
| الوصف: | Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. We describe here a four-generation family with a novel heterozygous pathogenic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)). A review of the literature retrieved 127 patients with capillary malformation-arteriovenous malformation syndrome and confirmed variants in EPHB4. Multiple capillary malformations were present in 114 (89.76%) patients, and 12 (9.44%) patients had a solitary capillary malformation. Arteriovenous malformations/fistulas were present in 23 (18.1%) patients, and were located within the central nervous system in 5 (3.9%) patients. Not all papers included description of epistaxis. Telangiectasias were reported in 28 (22%) patients, and Bier spots were described in 20 (15.7%) patients. The clinical characteristics of capillary malformation-arteriovenous malformation syndrome are diverse and often discrete, which can make it difficult to distinguish capillary malformation-arteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://portal.findresearcher.sdu.dk/da/publications/a303950a-5616-415c-96a1-18dbd4b0e7bcTest |
| DOI: | 10.2340/actadv.v102.1126 |
| الإتاحة: | https://doi.org/10.2340/actadv.v102.1126Test https://portal.findresearcher.sdu.dk/da/publications/a303950a-5616-415c-96a1-18dbd4b0e7bcTest https://findresearcher.sdu.dk/ws/files/200292062/1126.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.99EA4B30 |
| قاعدة البيانات: | BASE |
| DOI: | 10.2340/actadv.v102.1126 |
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