{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T14:49:36Z","timestamp":1776350976566,"version":"3.51.2"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,22]]},"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>\n                    Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant\n                    <jats:italic>PTEN<\/jats:italic>\n                    hamartomatous tumour syndrome characterised by macrocephaly, genital lentiginosis and intestinal polyposis, often with mucocutaneous, skeletal and vascular anomalies. We report a preadolescent boy with macrocephaly, oral papillomatosis, palmar keratoses, penile lentiginosis, pectus excavatum, hepatosplenomegaly, gastrointestinal hamartomatous polyps and intracranial vascular changes. A large high-flow arteriovenous malformation (AVM) of the right superficial femoral artery was surgically excised with skin graft reconstruction, resulting in a viable graft and no complications. The diagnosis was made using Parisi\n                    <jats:italic>et al<\/jats:italic>\n                    \u2019s BRRS criteria and Pilarski\u2019s\n                    <jats:italic>PTEN<\/jats:italic>\n                    syndrome guidelines. AVMs are rare in BRRS, reported in \u226410% of cases, typically high-flow and limb-located. This case underscores the need for multidisciplinary evaluation and surveillance for\n                    <jats:italic>PTEN<\/jats:italic>\n                    -associated malignancies and highlights surgical intervention\u2019s role in preventing complications while expanding BRRS\u2019s recognised vascular phenotype. Early recognition facilitates timely, targeted management.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-269126","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T13:55:19Z","timestamp":1776347719000},"page":"e269126","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Bannayan-Riley-Ruvalcaba syndrome with arteriovenous malformation"],"prefix":"10.1136","volume":"19","author":[{"given":"Akhilesh","family":"Shukla","sequence":"first","affiliation":[{"name":"Shri Balaji Institute of Medical Science Raipur, Chattisgarh, Chattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashansa","family":"Jaiswal","sequence":"additional","affiliation":[{"name":"Department of Dermatology, All India Institute of Medical Science Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Febin","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Dermatology STD and Leprosy, All India Institute of Medical Science Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"2026041606551027000_19.4.e269126.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.06.022"},{"key":"2026041606551027000_19.4.e269126.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.507"},{"key":"2026041606551027000_19.4.e269126.3","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.110390"},{"key":"2026041606551027000_19.4.e269126.4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300816200"},{"key":"2026041606551027000_19.4.e269126.5","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djt277"},{"key":"2026041606551027000_19.4.e269126.6","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1136\/jmg.38.1.52","article-title":"Bannayan-Riley-Ruvalcaba syndrome: clinical features and PTEN mutations in a series of 20 patients","volume":"38","author":"Parisi","year":"2001","journal-title":"J Med Genet"},{"key":"2026041606551027000_19.4.e269126.7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200289"},{"key":"2026041606551027000_19.4.e269126.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1461"},{"key":"2026041606551027000_19.4.e269126.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"2026041606551027000_19.4.e269126.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0899-7071(01)00241-8"},{"key":"2026041606551027000_19.4.e269126.11","doi-asserted-by":"crossref","DOI":"10.1016\/j.jvscit.2024.101428","article-title":"A rare case of Bannayan-Riley-Ruvalcaba syndrome with concurrent arteriovenous malformation","volume":"10","author":"Li","year":"2024","journal-title":"J Vasc Surg Cases Innov Tech"},{"key":"2026041606551027000_19.4.e269126.12","first-page":"1927","article-title":"Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome","volume":"27","author":"Srinivasa","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"2026041606551027000_19.4.e269126.13","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1016\/j.avsg.2011.05.022","article-title":"Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome","volume":"25","author":"Litzendorf","year":"2011","journal-title":"Ann Vasc Surg"},{"key":"2026041606551027000_19.4.e269126.14","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000209844","article-title":"Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review","volume":"103","author":"Dhawan","year":"2024","journal-title":"Neurology (ECronicon)"},{"key":"2026041606551027000_19.4.e269126.15","unstructured":"Bannayan-Riley-Ruvalcaba syndrome . Genetic and rare diseases information center. 2020. Available: https:\/\/rarediseases.info.nih.gov\/diseases\/5887\/bannayan-riley-ruvalcaba-syndrome"},{"key":"2026041606551027000_19.4.e269126.16","unstructured":"Yehia L , Eng C . PTEN hamartoma tumor syndrome. In: Adam MP , Bick S , Mirzaa GM , et al , eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 2001: 1993\u20132026. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1488\/"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T13:55:22Z","timestamp":1776347722000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4,16]]},"published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1136\/bcr-2025-269126"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269126","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]}}}