Blue Rubber Bleb Nevus Syndrome in the Colon, Tongue, and Supraglottic Region: Case Report

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Main Author: Fabián Eduardo Puentes-Manosalva
Format: Artículo científico
Language:en
Published: Asociación Colombiana de Gastroenterologia 2024
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author Fabián Eduardo Puentes-Manosalva
author_facet Fabián Eduardo Puentes-Manosalva
contents Blue Rubber Bleb Nevus Syndrome in the Colon, Tongue, and Supraglottic Region: Case Report Fabián Eduardo Puentes-Manosalva Rubén Darío Londoño-López Andrés Sánchez-Gil Lázaro Antonio Arango-Molano Medicina colon tongue glottis Blue Rubber Bleb Nevus Syndrome Blue Rubber Bleb Nevus Syndrome (BRBNS) is an extremely rare and likely hereditary condition characterized by the presence of numerous hemangiomatous lesions that are purplish, raised, and elastic, primarily affecting the skin and the digestive system. These lesions become prominent and rubbery to the touch. BRBNS can also affect other organs. Clinically, it may be asymptomatic or present with painful skin lesions, hyperhidrosis, abdominal pain, gastrointestinal bleeding, anemia, and hematuria, among other signs and symptoms. Treatment options include conservative management, pharmacological intervention, endoscopic procedures, or surgery. This report presents the clinical case of a 22-year-old woman with a history of BRBNS affecting the skin and lips but with no gastrointestinal symptoms. She is under dermatological follow-up and management. The patient was seen on an outpatient basis at the endoscopy unit of Unión de Cirujanos S.A.S. in Manizales, Colombia, at the Clinical-Surgical Gastroenterology Service of the Universidad de Caldas. An upper digestive endoscopy (EVDA) and ileocolonoscopy were performed to rule out the presence of similar lesions in the gastrointestinal tract. The EVDA revealed vascular, raised, rubbery lesions at the base of the tongue and in the supraglottic region, with no involvement of the esophagus, stomach, or duodenum. The ileocolonoscopy showed multiple vascular, raised lesions in the cecum, transverse colon, and descending colon. 2024 otro 0120-9957 https://www.redalyc.org/articulo.oa?id=337782279015 https://www.redalyc.org/journal/3377/337782279015/ https://www.redalyc.org/journal/3377/337782279015/html/ https://www.redalyc.org/journal/3377/337782279015/337782279015.epub https://www.redalyc.org/journal/3377/337782279015/movil 10.22516/25007440.1113 en http://www.redalyc.org/revista.oa?id=3377 Revista Colombiana de Gastroenterología application/pdf Asociación Colombiana de Gastroenterologia Revista Colombiana de Gastroenterología (Colombia) Num.3 Vol.39
format Artículo científico
id redalyc_337782279015
institution Redalyc
language en
publishDate 2024
publisher Asociación Colombiana de Gastroenterologia
spellingShingle Blue Rubber Bleb Nevus Syndrome in the Colon, Tongue, and Supraglottic Region: Case Report
Fabián Eduardo Puentes-Manosalva
Medicina
colon
tongue
glottis
Blue Rubber Bleb Nevus Syndrome
Blue Rubber Bleb Nevus Syndrome in the Colon, Tongue, and Supraglottic Region: Case Report Fabián Eduardo Puentes-Manosalva Rubén Darío Londoño-López Andrés Sánchez-Gil Lázaro Antonio Arango-Molano Medicina colon tongue glottis Blue Rubber Bleb Nevus Syndrome Blue Rubber Bleb Nevus Syndrome (BRBNS) is an extremely rare and likely hereditary condition characterized by the presence of numerous hemangiomatous lesions that are purplish, raised, and elastic, primarily affecting the skin and the digestive system. These lesions become prominent and rubbery to the touch. BRBNS can also affect other organs. Clinically, it may be asymptomatic or present with painful skin lesions, hyperhidrosis, abdominal pain, gastrointestinal bleeding, anemia, and hematuria, among other signs and symptoms. Treatment options include conservative management, pharmacological intervention, endoscopic procedures, or surgery. This report presents the clinical case of a 22-year-old woman with a history of BRBNS affecting the skin and lips but with no gastrointestinal symptoms. She is under dermatological follow-up and management. The patient was seen on an outpatient basis at the endoscopy unit of Unión de Cirujanos S.A.S. in Manizales, Colombia, at the Clinical-Surgical Gastroenterology Service of the Universidad de Caldas. An upper digestive endoscopy (EVDA) and ileocolonoscopy were performed to rule out the presence of similar lesions in the gastrointestinal tract. The EVDA revealed vascular, raised, rubbery lesions at the base of the tongue and in the supraglottic region, with no involvement of the esophagus, stomach, or duodenum. The ileocolonoscopy showed multiple vascular, raised lesions in the cecum, transverse colon, and descending colon. 2024 otro 0120-9957 https://www.redalyc.org/articulo.oa?id=337782279015 https://www.redalyc.org/journal/3377/337782279015/ https://www.redalyc.org/journal/3377/337782279015/html/ https://www.redalyc.org/journal/3377/337782279015/337782279015.epub https://www.redalyc.org/journal/3377/337782279015/movil 10.22516/25007440.1113 en http://www.redalyc.org/revista.oa?id=3377 Revista Colombiana de Gastroenterología application/pdf Asociación Colombiana de Gastroenterologia Revista Colombiana de Gastroenterología (Colombia) Num.3 Vol.39
title Blue Rubber Bleb Nevus Syndrome in the Colon, Tongue, and Supraglottic Region: Case Report
topic Medicina
colon
tongue
glottis
Blue Rubber Bleb Nevus Syndrome
url https://www.redalyc.org/articulo.oa?id=337782279015
https://www.redalyc.org/journal/3377/337782279015/
https://www.redalyc.org/journal/3377/337782279015/html/
https://www.redalyc.org/journal/3377/337782279015/337782279015.epub
https://www.redalyc.org/journal/3377/337782279015/movil