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.
Observations: 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.