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Capillary malformation

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https://www.readbyqxmd.com/read/27904286/eczema-within-a-capillary-malformation-a-case-of-meyerson-phenomenon
#1
Sang Jin Kim, You Chan Kim
No abstract text is available yet for this article.
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27873347/infantile-hemangioma-with-minimal-or-arrested-growth-further-observations-on-clinical-and-histopathologic-findings-of-this-unique-but-underrecognized-entity
#2
Ellen Hui Ma, Susan J Robertson, Chung W Chow, Philip S Bekhor
BACKGROUND: Infantile hemangioma (IH) with minimal or arrested growth (IH-MAG) is becoming increasingly recognized in the literature. It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic abnormalities; eye anomalies) syndrome or Sturge-Weber syndrome is suspected...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27835862/a-novel-mutation-in-nuclear-prelamin-a-recognition-factor-like-causes-diffuse-pulmonary-arteriovenous-malformations
#3
Hong-Zhou Liu, Chun-Xian Du, Jing Luo, Xue-Ping Qiu, Zu-Hua Li, Qi-Yong Lou, Zhan Yin, Fang Zheng
Two daughters in a Chinese consanguineous family were diagnosed as diffuse pulmonary arteriovenous malformations (PAVMs) and screened using whole exome sequencing (WES) and copy number variations (CNVs) chips. Though no mutation was found in the established causative genes of capillary malformation-AVMs (CM-AVMs) or PAVMs, Ser161Ile (hg19 NM_022493 c.482G>T) mutation in nuclear prelamin A recognition factor-like (NARFL) was identified. Ser161Ile mutation in NARFL conservation region was predicted to be deleterious and absent in 500 population controls and Exome Aggregation Consortium (ExAC) Database...
November 7, 2016: Oncotarget
https://www.readbyqxmd.com/read/27826976/patients-with-klippel-trenaunay-syndrome
#4
M Zavacka, J Pobehova, K Gibarti, M Frankovicova
Klippel-Trenaunay syndrome is the most frequent systemic venous angiodysplasia. It is characterized by cutaneous capillary malformations - naevus flammeus, excessive growth of soft and bone tissue, venous and lymphatic malformations. Investigative methods include: clinical examinations, venography as the evidence of dysplastic changes of superficial and / or deep venous system, the Moyne obstruction and venous insufficiency perforator. Treatment is conservative, related to that of chronic venous disease. The surgery is aimed at removing the varices and insufficient perforators (Fig...
2016: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#5
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27698872/radial-forearm-and-forehead-flap-reconstruction-following-resection-of-a-nasal-arteriovenous-malformation-a-case-report
#6
Chih-Shin Lin, Yung-Song Lin, Bor-Shyh Lin, Ching-Feng Lien, Ching-Feng Liu
Arteriovenous malformation (AVM) is a structural vascular abnormality in which the arterial vasculature connects with the venous vasculature without capillary connections. AVM confined to the nasal cavity is considerably rare. Blurred vision can be one of the associated symptoms. A combined approach of complete surgical resection with prior superselective embolization is the treatment of choice. Following resection, the reconstruction of facial defects, particularly in the nasal area, is challenging. The present study reports the rare case of a patient with an AVM in the nasal cavity, in which embolization, resection and flap reconstruction were performed...
October 2016: Oncology Letters
https://www.readbyqxmd.com/read/27631024/pik3ca-associated-developmental-disorders-exhibit-distinct-classes-of-mutations-with-variable-expression-and-tissue-distribution
#7
Ghayda Mirzaa, Andrew E Timms, Valerio Conti, Evan August Boyle, Katta M Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Stephen Braddock, Leah Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna Saitta, Rachel Straussberg, Michael Gabbett, Bridget C O'Connor, Catherine E Keegan, Lim Jiin Yin, Angeline Hwei Meeng Lai, Nicole Martin, Margaret McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E Schwartz, Agustina Lanoel, Robert L Conway, Koenraad Devriendt, Katrina Tatton-Brown, Mary Ella Pierpont, Michael Painter, Lisa Worgan, James Reggin, Raoul Hennekam, Karen Tsuchiya, Colin C Pritchard, Mariana Aracena, Karen W Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia Curry, Anne Goriely, Hulya Kayserilli, Jay Shendure, John Graham, Renzo Guerrini, William B Dobyns
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified PIK3CA mutations in 60 individuals...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27622111/correction-of-facial-deformity-in-sturge-weber-syndrome
#8
Kazuaki Yamaguchi, Daniel Lonic, Chit Chen, Lun-Jou Lo
BACKGROUND: Although previous studies have reported soft-tissue management in surgical treatment of Sturge-Weber syndrome (SWS), there are few reports describing facial bone surgery in this patient group. The purpose of this study is to examine the validity of our multidisciplinary algorithm for correcting facial deformities associated with SWS. To the best of our knowledge, this is the first study on orthognathic surgery for SWS patients. METHODS: A retrospective chart review included 2 SWS patients who completed the surgical treatment algorithm...
August 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27607321/genetic-basis-for-vascular-anomalies
#9
A Yasmine Kirkorian, Anna L Grossberg, Katherine B Püttgen
The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome...
September 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27607127/outcome-of-management-of-vascular-malformations-of-lip
#10
Muhammad Sohail, Muhammad Mustehsan Bashir, Hamid Hussain Ansari, Farid Ahmad Khan, Noreen Assumame, Nukhbat Ullah Awan, Asad Aizaz Chatha
OBJECTIVES: To describe the characteristics and outcome of management of vascular malformations of lip. PLACE AND DURATION OF STUDY: The Department of Plastic Surgery and Burn Unit, King Edward Medical University, Mayo Hospital, Lahore, from January 2009 to December 2013. METHODS: A prospective case series of 38 patients with vascular malformation of lip was performed. Demographic information and clinical features were noted. Treatment employed, complications, functional, and cosmetic outcome were recorded...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27587990/fam222b-is-not-a-likely-novel-candidate-gene-for-cerebral-cavernous-malformations
#11
Stefanie Spiegler, Bettina Kirchmaier, Matthias Rath, G Christoph Korenke, Fabian Tetzlaff, Maartje van de Vorst, Kornelia Neveling, Amparo Acker-Palmer, Andreas W Kuss, Christian Gilissen, Andreas Fischer, Stefan Schulte-Merker, Ute Felbor
Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3...
July 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27565546/a-rare-atypical-rapidly-involuting-congenital-hemangioma-combined-with-vascular-malformation-in-the-upper-limb
#12
Hui Lu, Qiang Chen, Hui Shen, Ganmin Ye
BACKGROUND: Rapidly involuting congenital hemangioma is a congenital soft tissue tumor, which is difficult to excise completely and rather prone to recur. This atypical tumor combined with capillary-lymphatic-venous malformation was not reported in the literature. CASE PRESENTATION: We report an atypical case of a 16-year-old teenager who was born with a mass in his right upper limb. Since there is a recurrence after excision for several times and had a serious impact on daily life, we chose amputation...
2016: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27557468/combination-of-sturge-weber-syndrome-and-trigonocephaly
#13
Oliver Ristow, Christian Freudlsperger, Moritz Berger, Heidi Bächli, Jürgen Hoffmann, Michael Engel
Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. However, to the best of our knowledge, the diagnosis of a combination of both Sturge-Weber syndrome and trigonocephaly has not as yet been reported. This brief clinical study thus presents a patient with the unusual findings of a Sturge-Weber syndrome and simultaneous trigonocephaly induced by premature metopic synostosis...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27542852/biological-relevance-of-tissue-factor-and-il-6-in-arteriovenous-malformations
#14
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Kazuo Hashi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Arteriovenous malformations (AVMs) are congenital abnormal vessels that shunt blood directly from the arterial to the venous system without a capillary bed. The underlying pathology of AVMs is not fully understood. The objective of the study was to determine the association between the expression patterns of tissue factor (TF) and interleukin-6 (IL-6) in AVMs with clinical and pathological findings. Eighteen cases of sporadic AVM with operative specimens were included in this study. The expression of messenger RNA (mRNA) of TF and IL-6 was assayed, and association with clinical factors was investigated...
August 19, 2016: Neurosurgical Review
https://www.readbyqxmd.com/read/27531570/microcephaly-capillary-malformation-syndrome-brothers-with-a-homozygous-stambp-mutation-uncovered-by-exome-sequencing
#15
Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R Marshall, Daniele Merico, Melissa T Carter, Stephen W Scherer, Mohammad H Al-Qahtani, Mehdi Zarrei
We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary malformation syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27517358/vascular-lesions
#16
Marla N Jahnke
Vascular lesions in childhood are comprised of vascular tumors and vascular malformations. Vascular tumors encompass neoplasms of the vascular system, of which infantile hemangiomas (IHs) are the most common. Vascular malformations, on the other hand, consist of lesions due to anomalous development of the vascular system, including the capillary, venous, arterial, and lymphatic systems. Capillary malformations represent the most frequent type of vascular malformation. IHs and vascular malformations tend to follow relatively predictable growth patterns in that IHs grow then involute during early childhood, whereas vascular malformations tend to exhibit little change...
August 1, 2016: Pediatric Annals
https://www.readbyqxmd.com/read/27511883/parkes-weber-syndrome-diagnostic-and-management-paradigms-a-systematic-review
#17
Igor Banzic, Milos Brankovic, Živan Maksimović, Lazar Davidović, Miroslav Marković, Zoran Rančić
OBJECTIVES: Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. METHODS: We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases)...
August 9, 2016: Phlebology
https://www.readbyqxmd.com/read/27509452/gamma-knife-radiosurgery-for-arteriovenous-malformations-clinical-series-of-199-patients
#18
Ipek Arslan, Evrim Tezcanli, Meltem Yilmaz, Olcay Cizmeli, Meric Sengoz, Selcuk Peker
AIM: Cerebral arteriovenous malformations (AVM) are pathological connections between arteries and veins without capillaries. Stereotactic radiosurgery (RS) is a proven and accepted treatment method for cerebral AVMs. Our objective was to analyze the factors influencing the clinical outcome in patients suffering from AVMs. MATERIAL AND METHODS: We retrospectively reviewed 199 patients who were treated with Gamma-Knife RS for intracranial AVMs between 13 October 2005 and 31 October 2010...
September 21, 2015: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27506610/angiomatous-pleomorphic-xanthoastrocytoma-a-case-report-and-literature-review
#19
Yue-Feng Jiang, Yang Liu, Ye-Lin Wang, Hong-Yi Cao, Liang Wang, Hong-Tao Xu, Qing-Chang Li, Xue-Shan Qiu, En-Hua Wang
BACKGROUND: Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far. CASE PRESENTATION: A 24-year-old Chinese female patient who presented with seizure and loss of consciousness for 15 min underwent computed tomography and magnetic resonance imaging, which revealed a mass in the left parietal lobe...
August 9, 2016: Diagnostic Pathology
https://www.readbyqxmd.com/read/27502552/oral-sildenafil-as-a-treatment-option-for-lymphatic-malformations-in-pik3ca-related-tissue-overgrowth-syndromes
#20
Sophie E R Horbach, Folkert Jolink, Chantal M A M van der Horst
Patients with extensive lymphatic malformations associated with tissue overgrowth syndromes (such as Klippel-Trenaunay syndrome and CLOVES) often pose a therapeutic challenge for physicians. In recent years, it has been suggested that oral sildenafil therapy might be used to treat congenital lymphatic malformations. However, this possible new therapy has not yet been used in patients with lymphatic malformations associated with tissue overgrowth syndromes. A 30-year-old man with extensive capillary-lymphatic malformations of the right leg and thorax, and a tissue overgrowth syndrome caused by a somatic mutation in the PIK3CA gene, was treated with oral sildenafil due to symptoms of pain, dyspnea, and functional impairment...
August 9, 2016: Dermatologic Therapy
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