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, radiog...

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Veröffentlicht in:Indian pediatrics 2016-06, Vol.53 (6), p.525-527
Hauptverfasser: Singal, Archana, Vohra, S., Sharma, R., Bhatt, S.
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container_title Indian pediatrics
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creator Singal, Archana
Vohra, S.
Sharma, R.
Bhatt, S.
description 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.
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subjects Adolescent
Case Report
Gastrointestinal Neoplasms
Humans
Male
Maternal and Child Health
Medicine
Medicine & Public Health
Nevus, Blue
Pediatric Surgery
Pediatrics
Pulmonary Valve Stenosis
Skin - pathology
Skin Neoplasms
title Blue rubber bleb nevus syndrome with musculo-skeletal involvement and pulmonary stenosis
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