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Capillary malformation

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https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#1
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28617243/fingertip-capillary-malformation-and-associated-disorders-report-of-9-cases
#2
Juan Carlos López-Gutiérrez, Pedro Redondo, Marta Ivars
Although capillary malformations (CMs) are not usually serious health problems in themselves, they can occasionally be warning signs for syndromes with more serious or aggressive vascular malformations not readily apparent at birth or on initial examination. We describe a series of 9 patients with a common phenotype: (1) CM on the fingertips; (2) associated combined vascular (lymphatic-venous) malformations on the trunk and/or extremities; and (3) in some cases, partial overgrowth and asymmetry of the extremities...
June 15, 2017: Pediatrics
https://www.readbyqxmd.com/read/28603431/hereditary-hemorrhagic-telangiectasia-and-pregnancy-potential-adverse-events-and-pregnancy-outcomes
#3
REVIEW
Omar Bari, Philip R Cohen
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28599054/coexistence-of-ephb1-and-ephrinb2-in-port-wine-stain-endothelial-progenitor-cells-contributes-to-clinicopathological-vasculature-dilatation
#4
W Tan, J Wang, F Zhou, L Gao, Y Rong, H Liu, A Sukanthanag, G Wang, M C Mihm, D-B Chen, J S Nelson
Port wine stain (PWS) is a vascular malformation characterized by a progressive dilatation of post-capillary venules, but the molecular pathogenesis remains obscure. We hypothesized that PWS endothelial cells (ECs) present a unique molecular phenotype that lead to pathoanatomic PWS vasculatures. We herein show multiple clinicopathologic features of PWS blood vessels during the development and progression of the disease. 1) There were no normal arterioles and venules phenotypically and morphologically observed in PWS skin; both arterioles and venules showed differentiation impairments, resulting in a reduction of arteriole-like vasculatures and defects in capillary loop formation in PWS lesions...
June 9, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28598555/experimental-and-numerical-investigation-on-the-transient-vascular-thermal-response-to-multi-pulse-nd-yag-laser
#5
Dong Li, Ruohui Li, Hao Jia, Bin Chen, Wenjuan Wu, Zhaoxia Ying
BACKGROUND AND OBJECTIVE: Port wine stains (PWS) are congenital vascular malformations that progressively darken and thicken with age. Laser therapy is currently the most effective way in clinical practice for PWS. A 1,064 nm Nd:YAG laser in the near-infrared band can achieve a deeper treatment depth compared to the current widely adopted pulsed dye laser. However, because of its relatively weak absorption by blood, single-pulse Nd:YAG laser requires high energy density to cause effective vessel damage, but may inflict undesirable burning to surrounding collagen...
June 9, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28597093/-pediatric-salivary-gland-tumors-and-tumor-like-lesions
#6
REVIEW
A Agaimy, H Iro, J Zenk
Salivary gland tumors and tumor-like lesions in the pediatric population are uncommon. They comprise a heterogeneous group of infectious/inflammatory and neoplastic conditions. Pediatric salivary neoplasms include benign tumors of mesenchymal or epithelial origin as well as malignancies of epithelial (carcinomas), mesenchymal (sarcoma) or hematolymphoid (lymphoma) derivation. Infectious/inflammatory conditions and hematolymphoid malignancies may represent either genuine parenchymal pathology or conditions involving intraglandular lymph nodes of the parotid glands (intraglandular lymphadenopathy and intraglandular nodal lymphomas)...
June 9, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28577738/-pik3ca-related-overgrowth-syndrome-pros
#7
Quitterie Venot, Guillaume Canaud
This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28558378/pial-arteriovenous-fistula-and-capillary-malformation-arteriovenous-malformation-associated-with-rasa1-mutation-2-pediatric-cases-with-successful-surgical-management
#8
A Jessey Chugh, Asim Shahid, Sunil Manjila, Deepak Gulati, Nicholas C Bambakidis
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body...
May 31, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28554576/congenital-capillary-proliferation-of-the-kidney-a-distinctive-renal-vascular-lesion-of-childhood
#9
Mariana M Cajaiba, Paula E North, Shunyou Gong, Paul S Dickman, Elizabeth Mroczek-Musulman, David A Sauer, Elizabeth J Perlman
Renal vascular lesions (RVL) are rare and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of twelve children. Seven lesions were classified as previously recognized entities: vascular malformations (four), papillary endothelial hyperplasia (two), and pyogenic granuloma (lobular capillary hemangioma) (one). An eighth lesion showed nonspecific findings which were interpreted as reactive during our review...
May 26, 2017: Human Pathology
https://www.readbyqxmd.com/read/28552538/the-utility-of-glut1-as-a-diagnostic-marker-in-cutaneous-vascular-anomalies-a-review-of-literature-and-recommendations-for-daily-practice
#10
REVIEW
Lieke J van Vugt, Carine J M van der Vleuten, Uta Flucke, Willeke A M Blokx
OBJECTIVE: To assess the utility of GLUT1 as an immunohistochemical marker in the diagnostics of cutaneous vascular anomalies. METHODS: A systematic literature search was conducted for studies on GLUT1 staining patterns in cutaneous vascular lesions. Data was grouped according to the latest ISSVA classification for vascular anomalies. RESULTS: Vascular tumors: GLUT1 staining was positive in 368/386 (95%) of infantile hemangiomas. Congenital hemangiomas (16 cases) and kaposiform hemangioendotheliomas (62 cases) were all negative for GLUT1...
June 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28552158/epidemiology-genetics-pathophysiology-and-prognostic-classifications-of-cerebral-arteriovenous-malformations
#11
Alp Ozpinar, Gustavo Mendez, Adib A Abla
Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. The literature suggests that most brain AVMs (bAVMs) are identified following evaluation of the etiology of acute cerebral hemorrhage, or incidentally on imaging associated with seizure or headache workup...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28545938/an-update-of-77-cases-diagnosed-as-oral-hemangiomas-based-on-glut-1-positivity
#12
Tiago João da Silva Filho, Denise Hélen Imaculada Pereira de Oliveira, Veruska Lima Moura Brasil, Cassiano Francisco Weege Nonaka, Éricka Janine Dantas da Silveira, Lélia Maria Guedes Queiroz
OBJECTIVES: To evaluate cases diagnosed as "oral hemangiomas" based on the immunohistochemical expression of human glucose transporter protein (GLUT-1) and on histopathological features, and to investigate whether the classification proposed by the ISSVA was used correctly to classify these lesions. MATERIAL AND METHODS: All cases stored in the archives of an Oral Pathology Service and diagnosed as "oral hemangiomas" were reviewed. Seventy-seven cases were analyzed regarding the expression of GLUT-1...
May 22, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28530642/rasa1-regulates-the-function-of-lymphatic-vessel-valves-in-mice
#13
Philip E Lapinski, Beth A Lubeck, Di Chen, Abbas Doosti, Scott D Zawieja, Michael J Davis, Philip D King
Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood. Here, we report that disruption of the Rasa1 gene in adult mice resulted in loss of LV endothelial cells (LECs) specifically from the leaflets of intraluminal valves in collecting LVs...
May 22, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28523092/management-of-a-life-threatening-bleeding-following-extraction-of-deciduous-second-molar-related-to-a-capillary-haemangioma
#14
REVIEW
Amr Amin Ghanem, Yasser Nabil El Hadidi
Various forms of vascular lesion affect the head and neck region. The head and neck vascular lesions are classified into neoplasms and malformations. Neoplasm presents either as hemangioma or lymphangioma; neoplasm usually presents in young age compared with vascular malformation. A 9-year-old female patient presented to the outpatient clinic referred from the department of pedodontics after extraction of a right mandibular second deciduous molar. Extraction was done by dental GP in outpatient clinic. Massive bleeding followed the extraction...
June 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#15
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#16
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28488085/novel-loss-of-function-mutation-in-krit1-ccm1-is-associated-with-distinctly-progressive-cerebral-and-spinal-cavernous-malformations-after-radiochemotherapy-for-intracranial-malignant-germ-cell-tumor
#17
Alexandra Russo, Marie Astrid Neu, Johanna Theruvath, Bettina Kron, Arthur Wingerter, Silla Hey-Koch, Yasemin Tanyildizi, Joerg Faber
PURPOSE: Cerebrospinal cavernous malformations (CCMs) are vascular lesions characterized by dilated and leaky capillary caverns. CCMs can cause seizures, focal neurological deficits or acute intracranial hemorrhage; however, most patients are asymptomatic. CCMs occur either sporadically or as a familial autosomal-dominant disorder. We present a clinical and molecular study of a patient with distinctive cerebral and spinal cavernous malformations following radiochemotherapy for a malignant brain tumor...
May 9, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28473356/a-case-of-pulsatile-scalp-swelling-in-a-child
#18
Daisy Khera, Pushpinder Singh Khera, Arvind Sinha, Neeraj Mehta
Arteriovenous fistulas (AVF) are an entity most commonly seen in the head and neck region. An AVF is a direct connection between the arterial feeders and the draining veins without intervening capillary beds (unlike an arteriovenous malformation in which a nidus intervenes between the arteries and veins). We describe a case of traumatic AVF in a child aged 9 years, who presented with a pulsatile scalp swelling following blunt trauma to the head. It turned out to be an AVF between the superficial temporal artery and vein...
May 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28469849/antenatal-gastrointestinal-anomalies-in-neonates-subsequently-found-to-have-alveolar-capillary-dysplasia
#19
Dimple Goel, Ju Lee Oei, Kei Lui, Meredith Ward, Antonia W Shand, David Mowat, Andrew J Gifford, Christine Loo
Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28466404/vascular-anomalies-a-pediatric-surgeon-s-perspective
#20
Alisha Gupta, Ajay Verma, Anjan Dhua, Veereshwar Bhatnagar
Anomalies affecting the capillary and venous channels form the bulk of the spectrum of vascular anomalies. As per International Society for the Study of Vascular Anomalies (ISSVA) classification, these are referred to as hemangiomas and venous malformations respectively. The present article is a descriptive note of their management and outcomes. Retrospective records of patients over 17 y (January 2000 through December 2016) were reviewed for presentation, management and outcomes. Outcomes were graded into 3 subgroups based on subjective assessment of clinical images: Group A = near-total response (>90%); Group B = 50-90% and Group C = <50% reduction...
May 3, 2017: Indian Journal of Pediatrics
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