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MRI showed extended fibrofatty changes and malformed vessels in the forearm and calf lesions, also, arteriovenous shunting was present in these lesions. The patient had been treated by embolisation and surgically in the past, with limited results. A multidisciplinary assessment and genetic counselling were undertaken and a surveillance programme was initiated. Treatment options of the symptomatic vascular lesions include excision or possibly cryoablation. Physiotherapy to prevent progression of the contractures should be initiated meanwhile.<\/jats:p>","DOI":"10.1136\/bcr-2016-215188","type":"journal-article","created":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T17:28:24Z","timestamp":1467221304000},"page":"bcr2016215188","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Assessment of PTEN-associated vascular malformations in a patient with Bannayan\u2013Riley\u2013Ruvalcaba syndrome"],"prefix":"10.1136","volume":"2016","author":[{"given":"Sandra","family":"Anusic","sequence":"first","affiliation":[{"name":"Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert Karl Josef","family":"Clemens","sequence":"additional","affiliation":[{"name":"Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas Oleg","family":"Meier","sequence":"additional","affiliation":[{"name":"Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrice Ruth","family":"Amann-Vesti","sequence":"additional","affiliation":[{"name":"Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,6,29]]},"reference":[{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2004.02.141"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5308.1943"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.3","doi-asserted-by":"publisher","DOI":"10.1007\/s12022-015-9403-6"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.048934"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36266"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.507"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1461"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)07109-4"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.9","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/ajmg.a.20474","article-title":"Proteus syndrome: misdiagnosis with PTEN mutations","volume":"122A","author":"Cohen","year":"2003","journal-title":"Am J Med Genet A"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.10","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/ajmg.a.30337","article-title":"Diagnosis of Proteus syndrome was correct","volume":"130A","author":"Kirk","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07196.x"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-333"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.13","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.214.3.r00mr21747"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.14","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329931"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-3019(98)00039-1"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.030569"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.18","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201823"},{"key":"2025082623284705000_2016.jun29_1.bcr2016215188.19","first-page":"1","article-title":"Lipomatosis, angiomatosis, and macrencephalia. 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