Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome

Bannayan--Riley--Ruvalcaba syndrome (BRRS) is a rare, usually autosomal dominant, disease associated with the PTEN hamartoma tumor syndrome, and it is clinically diagnosed in the presence of the triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Vascular malformations, including arteriolovenous shunts, arteriovenous anomalies, and arteriovenous fistulae, can also be seen in a subset of BRRS patients, varying from local overgrowth of small vessels to large aneurysms. The range of these vascular manifestations and the pathophysiology behind them are not completely understood. In this case study, we report on a patient with BRRS and recurrent vascular malformations of the left lower extremity. We also review the current literature, with a specific focus on the breadth of vascular malformations and reported care of these BRRS patients. Based on the recurrent and sometimes extensive nature of the vascular pathology, it is recommended that physicians monitor BRRS patients closely for early detection and treatment.