Blue rubber bleb nevus syndrome with musculo-skeletal involvement and pulmonary stenosis

Background Blue rubber bleb nevus syndrome is a rare clinical entity. Case characteristics A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis. Observation Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Echocardiography revealed pulmonary stenosis, an association hitherto undescribed. Message Detailed evaluation in a patient of blue rubber bleb nerves syndrome is mandatory.