Blue rubber bleb nevus syndrome: late onset in a patient with cutaneous, neurological, and gastrointestinal involvement

摘要

Introduction Blue rubber bleb nevus syndrome (BRBNS), also known as Bean’s syndrome, is an uncommon disorder characterized by multiple venous malformations affecting more frequently the skin and gastrointestinal tract, with possible involvement of any organ.1-4 There are only about 200 cases reported in the literature. Diagnosis is usually at birth or in early childhood, but late onset, despite being rare, has been previously reported.4-6 Typical skin lesions are blue or purple nodules, papules, or plaques, with a rubbery feel, that may coalesce into large masses, mostly located in the upper limbs and trunk.2 Cutaneous disease does not change the prognosis but should alert to possible and frequent internal lesions. Morbidity and mortality are determined by the extension of visceral involvement and are usually associated with intestinal bleeding.1-4