Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis

Indian Pediatr. 2016 Jun 8;53(6):525-7. doi: 10.1007/s13312-016-0884-2.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Gastrointestinal Neoplasms*
  • Humans
  • Male
  • Nevus, Blue*
  • Pulmonary Valve Stenosis*
  • Skin / pathology
  • Skin Neoplasms*

Supplementary concepts

  • Blue rubber bleb nevus syndrome