Bannayan-Riley-Ruvalcaba syndrome with arteriovenous malformation

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant PTEN 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 et al ’s BRRS criteria and Pilarski’s PTEN syndrome guidelines. AVMs are rare in BRRS, reported in ≤10% of cases, typically high-flow and limb-located. This case underscores the need for multidisciplinary evaluation and surveillance for PTEN -associated malignancies and highlights surgical intervention’s role in preventing complications while expanding BRRS’s recognised vascular phenotype. Early recognition facilitates timely, targeted management.