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Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis
1Departments of Dermatology and STD, and *Radiology, University College of Medical Sciences and GTB Hospital (University of Delhi), Dilshad Garden, Delhi, India. Correspondence to: Dr (Prof) Archana Singal, University College of Medical Sciences and GTB Hospital, Delhi 110 095, India. archanasingal@hotmail.com.
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.
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