Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. [PDF]
, 2016 Venous malformations (VMs) are painful and deforming vascular lesions composed of dilated vascular channels, which are present from birth. Mutations in the TEK gene, encoding the tyrosine kinase receptor TIE2, are found in about half of sporadic ...
Angulo-Urarte, Ana +27 more
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HereditasBlue rubber bleb nevus syndrome (BRBNS) and cutaneomucosal venous malformation (VMCM) both manifest as venous malformations (VMs) characterized by blue, compressible nodules.
Jiaxue Zhu +4 more
doaj +1 more source
Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report
The Pan African Medical Journal, 2014 Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal.
Yuanjie Wang, Xiaojun Zhao, Xiaolan You
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, 2016 Os hemangiomas infantis são os tumores mais comuns da infância, ocorrendo em cerca de 3 a 10% das crianças com ida- de inferior a um ano de idade, com predomínio no sexo feminino.
Passas, Maria Armanda, Teixeira, Marta
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Proceedings of the 16th Annual Meeting of the Society for Pediatric Dermatology [PDF]
, 1992 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/75156/1/j.1525-1470.1992.tb00329.x ...
Gellis, Stephen +3 more
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Recurrent Severe Hypochromic Microcytic Anemia Multiple Blood Transfusions and Skin Lesions: Blue Rubber Bleb Nevus Syndrome [PDF]
, 2018 Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital disease of unknown etiology, presents with multiple venous malformations in skin and visceral organs particularly Gastrointestinal Tract (GIT).
Anirban Chatterjee, Subham Bhattacharya
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Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome [PDF]
, 2018 The occurrence of multiple developmental venous anomalies in this study of 10 patients with constitutional mismatch repair deficiency syndrome (CMMRD) suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been
Ben-Sira, L +7 more
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Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face
Case Reports in Dermatology, 2015 An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm.
Ayumi Korekawa +4 more
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Síndrome de Blue Rubber Bleb Nevus - relato de caso [PDF]
Introdução: A síndrome de Blue Rubber Bleb nevus (SBRBN) caracteriza-se por uma anomalia vascular que acomete a pele e vários órgãos como o trato gastrointestinal (TGI). As manifestações clínicas decorrem da perda crônica de sangue levando a um quadro de
Alves, Caroline Farias Marques
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Progress in the genetics research of infantile hemangioma and vascular malformations
口腔疾病防治, 2019 The etiology and pathogenesis of hemangiomas and vascular malformations are still unclear and face many challenges in terms of treatment. This article focuses on the etiology and genetic mechanism of common vascular tumors (such as infantile hemangiomas,
ZHENG Jiawei, ZHAO Zeliang
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