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

Abstract:

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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Singal A,Vohra S,Sharma R,Bhatt S

doi

10.1007/s13312-016-0884-2

subject

Has Abstract

pub_date

2016-06-08 00:00:00

pages

525-7

issue

6

eissn

0019-6061

issn

0974-7559

journal_volume

53

pub_type

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