Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We descri...

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Detalles Bibliográficos
Autores principales: Alreefi, Hajar, AlKhateeb, Mashael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024125/
https://www.ncbi.nlm.nih.gov/pubmed/33814375
http://dx.doi.org/10.17712/nsj.2021.2.20200111
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author Alreefi, Hajar
AlKhateeb, Mashael
author_facet Alreefi, Hajar
AlKhateeb, Mashael
author_sort Alreefi, Hajar
collection PubMed
description Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding
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spelling pubmed-80241252021-06-03 Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement Alreefi, Hajar AlKhateeb, Mashael Neurosciences (Riyadh) Case Reports Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding Riyadh : Armed Forces Hospital 2021-04 /pmc/articles/PMC8024125/ /pubmed/33814375 http://dx.doi.org/10.17712/nsj.2021.2.20200111 Text en Copyright: © Neurosciences https://creativecommons.org/licenses/by-nc/3.0/Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.
spellingShingle Case Reports
Alreefi, Hajar
AlKhateeb, Mashael
Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title_full Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title_fullStr Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title_full_unstemmed Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title_short Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
title_sort blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and cns involvement
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024125/
https://www.ncbi.nlm.nih.gov/pubmed/33814375
http://dx.doi.org/10.17712/nsj.2021.2.20200111
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