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Capillary malformation

Francesco Pichi, K Bailey Freund, Antonio Ciardella, Mariachiara Morara, Emad B Abboud, Nicola Ghazi, Christine Dackiw, Netan Choudhry, Eduardo Cunha Souza, Leonardo Provetti Cunha, J Fernando Arevalo, T Y Alvin Liu, Adam Wenick, Lingmin He, Guadalupe Villarreal, Piergiorgio Neri, David Sarraf
Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective: To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. Design, Setting, and Participants: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017)...
March 1, 2018: JAMA Ophthalmology
Pieter Denorme, Marie-Anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
March 1, 2018: Pediatric Dermatology
Ai Peng Tan, Wui Khean Chong
BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p...
February 23, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Hongen Lei, Xing Guan, Hu Han, Xiaosong Qian, Xiaoguang Zhou, Xiaodong Zhang, Long Tian
INTRODUCTION: Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues. AIMS: To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome. METHODS: On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded...
February 13, 2018: Sexual Medicine
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela Del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martinez-Glez
PurposeCLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.MethodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing...
February 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loic Quevarec, Helène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Ivo Gut, Jelena Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools...
February 9, 2018: Brain: a Journal of Neurology
Sung-Min Park, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
No abstract text is available yet for this article.
January 2018: Korean Journal of Pediatrics
Inês M Carqueja, Joel Sousa, Armando Mansilha
BACKGROUND: Vascular malformations are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. In this article, we aim to review the classification, diagnosis and treatment of the main vascular malformations. METHODS: A thorough non-systematic review of the literature was conducted using PubMed/Medline. Seventy-nine articles were selected and included, according to their scientific relevance and relation with the subject...
February 8, 2018: International Angiology: a Journal of the International Union of Angiology
René Müller-Wille, Moritz Wildgruber, Maliha Sadick, Walter A Wohlgemuth
BACKGROUND:  The International Society for the Study of Vascular Anomalies (ISSVA) categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided into slow-flow (venous, lymphatic, and capillary malformation) and fast-flow malformations (arteriovenous malformation and arteriovenous fistula). This interdisciplinary classification has therapeutic implications. METHODS:  The objective of this article is to provide concise information about the current terminology and treatment strategies of peripheral vascular malformations, based on the currently available literature, with a focus on interventional therapy of venous malformations (VM), lymphatic malformations (LM), arteriovenous malformations (AVM) and arteriovenous fistulae (AVF)...
February 7, 2018: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
Rudolf Happle
No abstract text is available yet for this article.
February 6, 2018: Acta Dermato-venereologica
Necmettin Tutuncu, Goktekin Tenekeci, Sakir Unal, Necat Yilmaz, Celal Bagdatoglu
AIM: Whether the macular lesions associated with spinal dysraphism should be preserved is controversial. This area is usually excised during reconstruction. This study aims to characterize the macular lesions associated with spinal dysraphism and to determine the outcomes of cases in which macular lesions are not excised. MATERIAL AND METHODS: The patient cohort comprised 17 patients with spinal dysraphism who were treated at Mersin University Hospital from 2005 through 2007...
December 17, 2017: Turkish Neurosurgery
Juan Wang, Yu-You Zhu, Zhong-Ying Wang, Xiu-Hua Yao, Lan-Fang Zhang, Hong Lv, Si-Ping Zhang, Bai Hu
Port-wine stains (PWS) are congenital capillary malformations, usually occurring on the face, neck, and other exposed parts of the skin, that have serious psychological and social impact on the patient. Most researchers focus on the treatment of PWS, but the quality of life (QoL) of PWS patients is seldom researched. The objective of this study is to evaluate the QoL of patients with PWS on exposed parts and explore the factors influencing the QoL of PWS patients. The QoL of 197 cases with PWS on exposed parts were prospectively studied using the Dermatology Life Quality Index questionnaire (DLQI), and the factors influencing the patients' QoL were analyzed by single-factor analysis and multiple-factor logistic regression analysis...
December 2017: Medicine (Baltimore)
(no author information available yet)
No abstract text is available yet for this article.
January 27, 2018: BMJ Open
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
S Mylonas, S Brunkwall, J Brunkwall
Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later...
January 9, 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant congenital melanocytic nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
January 5, 2018: Pigment Cell & Melanoma Research
Allison M Johnson, James P Roach, Anna Hu, Svetlana M Stamatovic, Michal R Zochowski, Richard F Keep, Anuska V Andjelkovic
Familial cerebral cavernous malformations type III (fCCM3) is a disease of the cerebrovascular system caused by loss-of-function mutations in ccm3 that result in dilated capillary beds that are susceptible to hemorrhage. Before hemorrhage, fCCM3 lesions are characterized by a hyperpermeable blood-brain barrier (BBB), the key pathologic feature of fCCM3. We demonstrate that connexin 43 (Cx43), a gap junction (GJ) protein that is incorporated into the BBB junction complex, is up-regulated in lesions of a murine model of fCCM3...
January 8, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Bipasha Mukherjee, Vathsalya Vijay, Swatee Halbe
Periorbital arteriovenous malformations (AVMs) are congenital lesions that may cause significant morbidity such as amblyopia, cosmetic disfigurement, or chronic pain. Due to the rarity of these lesions, they are frequently misdiagnosed and treated inappropriately. We managed a 6-year-old girl with preseptal AVM by endovascular embolization followed by complete surgical excision after 2 days. She was previously diagnosed as capillary hemangioma and was being treated with intralesional steroid injections and oral propranolol...
January 2018: Indian Journal of Ophthalmology
Elisa Brandigi, Giovanni Torino, Mario Messina, Francesco Molinaro, Oscar Mazzei, Tommaso Matucci, Juan Carlos López Gutiérrez
OBJECTIVE: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS...
December 7, 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
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