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Vascular Malformations (vascular + malformation)
Selected AbstractsUtility of Intralesional Sclerotherapy with 3% Sodium Tetradecyl Sulphate in Cutaneous Vascular MalformationsDERMATOLOGIC SURGERY, Issue 3 2010MNAMS, SUJAY KHANDPUR MBBS BACKGROUND Vascular malformations have devastating cosmetic effects in addition to being associated with pain and bleeding. Sclerotherapy has been successfully used in treating complicated hemangiomas and vascular malformations. OBJECTIVES To assess the efficacy of sclerotherapy with 3% sodium tetradecyl sulphate (STS) in venous and lymphatic malformations. MATERIALS AND METHOD We performed sclerotherapy with 3% STS in 13 patients with venous malformations and microcystic lymphatic malformation, all low-flow malformations and with extent predominantly to the subcutis, confirmed using Doppler ultrasound. Lesions were located on the face, lower lip, flanks, buttocks, and extremities. Patients presented for cosmetic reasons, pain, or bleeding. Sclerotherapy was undertaken as an office procedure without any radiological guidance and therapy repeated every 3 weeks. Therapeutic efficacy was assessed subjectively clinically and photographically. RESULTS The lesions regressed by 90% to 100% in 11 cases after a mean of four injections, with no improvement in two cases (one each of venous malformation and lymphatic malformation). Complications included cutaneous blister formation, erosions, and crusting at injection site in seven cases and atrophic scarring in four patients. CONCLUSIONS Sclerotherapy with 3% STS is a simple, safe, and effective modality for venous malformations and can be undertaken as an office procedure in lesions limited to the subcutis. The authors have indicated no significant interest with commercial supporters. [source] Histopathological features of Proteus syndromeCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2008S. E. H. Hoey Summary Background., Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. Objective., To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Methods., Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. Results., There were 18 surgical specimens from nine patients, median age 4 years (range 1,9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. Conclusions., The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations. [source] Longstanding malformation of right sided pinna in an elderly manCONGENITAL ANOMALIES, Issue 1 2010Deeke Yolmo ABSTRACT The pinna is the second most common site for external ear vascular malformation in the head and neck. These malformations are relatively uncommon in adults and can pose difficult therapeutic challenges. We hereby present a case of a 69-year-old man with a congenital lesion in the right pinna consistent with an arteriovenous malformation. The lesion was complicated by ulceration and bleeding for 6 months prior to presentation. Resection of pinna was carried out, and satisfactory functional and esthetic results were obtained. There was no recurrence at 22 months of regular follow up. [source] Port-Wine Stain Nodules in the Adult: Report of 20 Cases Treated by CO2 Laser VaporizationDERMATOLOGIC SURGERY, Issue 8 2001Jesús Del Pozo MD Background. Port-wine stain (PWS) is a congenital vascular malformation of the superficial dermal vessels. These vessels become progressively ectatic, with development of nodular and hypertrophic areas on the surface of the lesions. Objective. To determine the efficacy of CO2 laser vaporization in the treatment of nodules in PWS. Methods. Twenty adult patients with PWS who developed nodules and hypertrophy on the surface of the lesions were treated by CO2 laser vaporization. Only one pass was performed to each area of the lesions, using a continuous and defocused mode, with a power density of 10 W/cm2. When the treated lesion was very large, several sessions of treatment were necessary to vaporize its entire surface. Photographic controls were performed before and after treatment. Results. The nodules and hypertrophy were removed and the smooth surface of the lesions was reestablished. The color, usually violaceous, was transformed in a slight erythema. Conclusion. CO2 laser is a good method for treatment of nodules and hypertrophy in PWS. With adequate precautions, excellent cosmetic results can be obtained. Other more-specific laser systems may be successively used to treat the remaining erythema. [source] Sturge,Weber syndrome and paroxysmal hemiparesis: epilepsy or ischaemia?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2004Floor E Jansen MD Transient neurological deficits experienced by patients with Sturge,Weber syndrome can be caused by epilepsy, or may result from temporary ischaemia of the cortex underlying the vascular malformation. To show the difficulty in distinguishing seizures from ischaemic symptoms, two male children with episodes of acute unilateral weakness are presented here as well as a review of the literature. The first child presented at 2 years of age with a sudden increase in his pre-existing right hemiparesis accompanied by screaming. Ictal epileptiform activity was recorded at the moment of the attack, and subsequent seizures were controlled by adjustment of antiepileptic drug treatment. The second child presented at 4 years of age with attacks of vomiting and a coinciding increase in the pre-existing paresis of the left leg. Electroencephalogram (EEG) recording did not show ictal epileptiform activity. The origin was presumed to be vascular. Treatment with aspirin led to control of these transient ischaemic attacks. Ictal EEG is needed to differentiate between an epileptic and an ischaemic origin of transient focal deficit. Treatment with aspirin should be considered if an ischaemic origin cannot be excluded. [source] Radiation therapy for intractable bleeding in extremity arteriovenous malformation: Considerations on a clinical caseJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2009JS Goda Summary Arteriovenous malformations are rare clinicopathological entities with varied distribution and a constellation of symptoms. In the extremities they are usually associated with dermatological manifestations, such as angiodermatitis with a potential risk of torrential haemorrhage. Surgical resection is a morbid procedure. Transcatheter embolization and sclerotherapy is an attractive alternative to surgical resection. However, proper case selection is a prerequisite and may not be possible in all the cases. The case reported here is a paradigm of a complex and extensive vascular malformation with torrential haemorrhage where a unique therapeutic approach of radiation therapy was used as an alternative to morbid surgery after embolization and sclerotherapy failure. [source] Pyogenic abscess complicating a resolving cerebral haematoma secondary to a cavernous haemangioma: Computed tomography and magnetic resonance imaging findingsJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 2 2005AD Borsaru Summary A case is discussed of a brain abscess complicating an intracerebral haemorrhage occurring in a cavernous haemangioma. A young child presented with focal seizures as a result of a large intracerebral haemorrhage, occurring in a cavernous haemangioma. The only clue to the underlying vascular malformation was the presence of an associated developmental venous anomaly. The case was complicated by the development of a brain abscess at the site of the intracranial haematoma. The CT and MRI findings are discussed. [source] Pseudo-Kaposi Sarcoma with Arteriovenous MalformationPEDIATRIC DERMATOLOGY, Issue 4 2001Margarita Larralde M.D., Ph.D. Pseudo-Kaposi sarcoma with vascular malformation (Stewart,Bluefarb syndrome) is an uncommon and important entity characterized by congenital arteriovenous malformation and skin lesions that may resemble Kaposi sarcoma. This is usually seen in the lower limb of young people. We report a case of this syndrome in a 17-year-old boy who had skin lesions on the right leg and foot. [source] Double Aortic Arch in a Dog (Canis Familiaris): a Case ReportANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 6 2001C. Ricardo We herein report a case of a double aortic arch in a 10-week-old male dog of no defined race, which presented episodes of regurgitation at the time of weaning. This vascular malformation was characterized by the persistence of two aortic arches, right and left, of varying dimensions. The right aortic arch was observed to be larger. During post mortem examination the vessels of the animal were injected with coloured latex bi-centrifuged CIS I-4 polisopreno which revealed the patency of the two aortic arches. Concomitantly, dilation of the cranial oesophagus causing constriction was observed, indicating megaesophagus. Apart from the constriction, the oesophagus presented normal morphometric parameters in relation to its dimensions. [source] Cerebral developmental venous anomalies: Current concepts,ANNALS OF NEUROLOGY, Issue 3 2009Diego San Millán Ruíz MD Cerebral developmental venous anomalies are the most frequently encountered cerebral vascular malformation, and as such, are frequently reported as fortuitous findings in computed tomography (CT) and magnetic resonance imaging (MRI) studies. Developmental venous anomalies (DVAs) are generally considered extreme anatomical variations of the cerebral vasculature, and follow a benign clinical course in the vast majority of cases. Here we review current concepts on DVAs with the aim of helping clinicians understand this complex entity. Morphological characteristics that are necessary to conceptualize DVAs are discussed in depth. Images modalities used in diagnosing DVAs are reviewed, including new MRI or CT techniques. Clinical presentation, association with other vascular malformations and cerebral parenchymal abnormalities, and possible physiopathological processes leading to associated imaging or clinical findings are discussed. Atypical forms of DVAs are also reviewed and their clinical significance discussed. Finally, recommendations as to how to manage asymptomatic or symptomatic patients with a DVA are advanced. Ann Neurol 2009;66:271,283 [source] Extensive venous/lymphatic malformations causing life-threatening haematological complicationsBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2007J. Mazereeuw-Hautier Summary Background, Large venous/lymphatic slow-flow malformations (SFM) can be associated with a coagulopathy resulting in thrombosis and haemorrhage. Such potentially life-threatening complications of SFM have been reported only rarely. Objectives, To better define the clinical characteristics of haematological complications associated with SFM, to highlight the importance of recognition and to discuss the management of these difficult-to-treat patients. Patients and methods, A cohort of six children who presented with massive SFM associated with serious haematological complications was seen between January 1980 and June 2005 in the Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, U.K. (tertiary referral centre for vascular anomalies). Clinical and haematological characteristics were recorded. Results, Patients were aged 1,20 years. All suffered with recurrent episodes of pain, localized skin necrosis and bleeding. All had intravascular coagulopathy and life-threatening complications. These included brain haemorrhage, massive bleeding from the uterus and colon, large and extensive thromboses of the deep vessels in the abdomen and pelvis and severe haemoptysis. One patient died suddenly at the age of 20 years from pulmonary thromboembolism and thrombosis within the deep vessels of the vascular malformation. The youngest patient underwent a leg amputation to remove the huge vascular malformation due to the major risk of complications and lack of limb function. Three of the patients underwent anticoagulation treatment and showed improvement in their coagulopathy. Conclusions, It is essential that patients with extensive SFM have their coagulation screened regularly to detect intravascular coagulopathy. This may progress to disseminated vascular coagulopathy and a serious risk of thrombosis and haemorrhage. Such patients require early anticoagulation in an attempt to prevent these secondary complications. [source] Histopathological features of Proteus syndromeCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2008S. E. H. Hoey Summary Background., Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. Objective., To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Methods., Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. Results., There were 18 surgical specimens from nine patients, median age 4 years (range 1,9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. Conclusions., The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations. [source] Left Coronary Artery Arteriovenous Malformation Presenting as a Diastolic Murmur with Exercise Intolerance in a Child with a Suspected Familial Vascular Malformation SyndromeCONGENITAL HEART DISEASE, Issue 3 2007Valerie A. Schroeder MD Abstract Objective., Intracardiac arteriovenous malformations are rare and may be associated with sudden death in adults. This case report describes an intracardiac left coronary arteriovenous malformation in a 7-year-old boy with a suspected familial cutaneous vascular malformation syndrome. The patient presented with a diastolic murmur, exercise intolerance, chest pain, and a left ventricular mass. Methods., The left ventricular mass was initially identified by echocardiography. Subsequently, a computed tomography scan revealed the vascular nature of the lesion. We hypothesized that the lesion represented either an arteriovenous malformation (AVM) or a hemangioma. These lesions are thought to cause coronary steal and myocardial dysfunction. Skin biopsies of the patient's cutaneous lesions revealed capillary hyperplasia, which was not consistent with either hemangioma or AVM. Thus, a surgical biopsy and partial resection of the mass was performed. Results., The surgical pathology of the cardiac mass was consistent with an AVM. Within 6 months following partial resection of the mass, the patient unexpectedly developed a left ventricular pseudoaneurysm at the resection site and required re-operation. Although a portion of the mass remains, both the patient's chest pain and exercise tolerance have improved subjectively. Conclusion., Patients with cutaneous vascular malformations and diastolic murmurs, as well as cardiac symptoms, should undergo echocardiography or alternative imaging modalities to screen for treatable pathological myocardial vascular malformations. [source] Utility of Intralesional Sclerotherapy with 3% Sodium Tetradecyl Sulphate in Cutaneous Vascular MalformationsDERMATOLOGIC SURGERY, Issue 3 2010MNAMS, SUJAY KHANDPUR MBBS BACKGROUND Vascular malformations have devastating cosmetic effects in addition to being associated with pain and bleeding. Sclerotherapy has been successfully used in treating complicated hemangiomas and vascular malformations. OBJECTIVES To assess the efficacy of sclerotherapy with 3% sodium tetradecyl sulphate (STS) in venous and lymphatic malformations. MATERIALS AND METHOD We performed sclerotherapy with 3% STS in 13 patients with venous malformations and microcystic lymphatic malformation, all low-flow malformations and with extent predominantly to the subcutis, confirmed using Doppler ultrasound. Lesions were located on the face, lower lip, flanks, buttocks, and extremities. Patients presented for cosmetic reasons, pain, or bleeding. Sclerotherapy was undertaken as an office procedure without any radiological guidance and therapy repeated every 3 weeks. Therapeutic efficacy was assessed subjectively clinically and photographically. RESULTS The lesions regressed by 90% to 100% in 11 cases after a mean of four injections, with no improvement in two cases (one each of venous malformation and lymphatic malformation). Complications included cutaneous blister formation, erosions, and crusting at injection site in seven cases and atrophic scarring in four patients. CONCLUSIONS Sclerotherapy with 3% STS is a simple, safe, and effective modality for venous malformations and can be undertaken as an office procedure in lesions limited to the subcutis. The authors have indicated no significant interest with commercial supporters. [source] Quantitative EEG Asymmetry Correlates with Clinical Severity in Unilateral Sturge-Weber SyndromeEPILEPSIA, Issue 1 2007Laura A. Hatfield Summary:,Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with vascular malformations of the skin, brain, and eye. SWS results in ischemic brain injury, seizures, and neurologic deficits. We hypothesized that a decrease in quantitative EEG (qEEG) power, on the affected side, correlates with clinical severity in subjects with SWS. Methods: Fourteen subjects had 16-channel scalp EEG recordings. Data were analyzed using fast Fourier transform and calculation of power asymmetry. Blinded investigators assigned scores for clinical neurological status and qualitative assessment of MRI and EEG asymmetry. Results: The majority of subjects demonstrated lower total power on the affected side, usually involving all four frequency bands (delta, theta, alpha, and beta). qEEG asymmetry correlated strongly with neurologic clinical severity scores and MRI asymmetry scores. qEEG data generally agreed with the MRI evidence of regional brain involvement. In MRI-qEEG comparisons that did not agree, decreased power on qEEG in a brain region not affected on MRI was more likely to occur in subjects with more severe neurologic deficits. Conclusions: qEEG provides an objective measure of EEG asymmetry that correlates with clinical status and brain asymmetry seen on MRI. These findings support the conclusion that qEEG reflects the degree and extent of brain involvement and dysfunction in SWS. qEEG may potentially be a useful tool for early diagnosis and monitoring of disease progression in SWS. qEEG may prove useful, in severely affected individuals with SWS, for determining regions of brain dysfunction. [source] Epileptogenicity of Supratentorial Medullary Venous MalformationEPILEPSIA, Issue 2 2006Takato Morioka Summary:,Purpose: The purpose of this study was to evaluate the epileptogenicity of supratentorial medullary venous malformation (MVM). Special consideration was given to any associations with intracerebral hemorrhage with or without other vascular malformations, including cavernous angioma (CA). Methods: In total, 10 patients with angiographically or histologically verified MVMs were examined. The patients were divided into two groups with or without intracerebral hemorrhage, and their clinical, neuroradiologic, and interictal and ictal EEG findings were reviewed retrospectively. Results: Although three of five patients in the nonhemorrhagic group had epilepsy, no topographic concordance was found between the MVM location and the EEG focus. On the contrary, in four of five patients in the hemorrhagic group, epilepsy developed, and topographic concordance between the hemorrhagic MVM location and the EEG focus was noted. One patient with a hemorrhagic MVM and an associated CA in the hippocampus had electroclinical pictures of intractable medial temporal lobe epilepsy on this side. Conclusions: Although a supratentorial MVM itself is not epileptogenic, the development of an intracerebral hemorrhage may cause epilepsy. In particular, an associated CA may be highly epileptogenic. [source] Neurobrucellosis as an exceptional cause of transient ischemic attacksEUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2006A. Bingöl We report a series of four cases presented with transient ischemic attacks (TIA) or ischemic stroke as the predominant manifestation of neurobrucellosis (NB). Three of the patients were 20,28 years of age, and one patient was 53 years old. They all used to consume unpasteurized milk or its products. Two patients had systemic brucellosis in the past and received antibiotic treatment. Other causes of TIA including cardiac embolism, hypercoagulability, vascular malformations, systemic vasculitis, and infective endocarditis were excluded. NB was diagnosed with serological tests or cultures for Brucella in the cerebrospinal fluid. None of the patients had any further TIA after the initiation of specific treatment. NB should always be sought in young patients with TIA or ischemic stroke, especially if they have no risk factors for stroke and live in an endemic area for brucellosis, even if they do not have other systemic signs of brucellosis. [source] Neodymium-YAG Laser for hemangiomas and vascular malformations , long term resultsJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 6 2005Die Behandlung von Hämangiomen und vaskulären Fehlbildungen mit dem Neodymium-YAG-Laser, Langzeitergebnisse Hämangiom; Lasertherapie; Nd:YAG-Laser; vaskuläre Malformation Summary Background: Hemangiomas and vascular malformations are the most common vascular lesions of infancy. Different lasers can be used for treatment. Nd:YAG laser photocoagulation is particularly effective because of its deep penetration into tissue. Patients and methods: Thirty-one patients, aged from three months to 18,years, with voluminous hemangiomas and venous malformations were treated with a cw-neodymium:YAG laser. The quartz fibre was used in percutaneous and intralesional technique. Long-term follow-up data were acquired by clinical control or a patient questionnaire for a maximal period of eight years. Twenty patients could be evaluated. Results: In the group with hemangiomas (n,=,15), three cases showed nearly complete remission (> 90 %), ten cases had a partial reduction in size (50,,,90 %), in one case there was stable disease and in one case tumor growth. In the group with venous malformations (n,=,5) two cases showed an excellent response (> 90 %), one case a moderate response (25,,,50 %) and in two cases there was no improvement. Adverse effects included scars (40 %), hyper- and hypopigmentation (23 %), mild atrophy (20 %) and a wrinkled texture (17 %). After maximal reduction in size, 30 % of the patients were not satisfied with the laser treatment outcome and elected surgical excision of the residual lesion. Conclusions: The neodymium:yttrium aluminium garnet (Nd:YAG) laser with percutaneous or intralesional application technique is a valuable tool for selected patients with hemangiomas and venous malformations. Zusammenfassung Hintergrund: Hämangiome und vaskuläre Malformationen sind die häufigsten Gefäßfehlbildungen in der Kindheit. Eine Therapieoption stellt die Laserbehandlung dar. Der Nd:YAG-Laser ist besonders effektiv aufgrund seiner hohen Eindringtiefe ins Gewebe. Patienten und Methodik: Insgesamt wurden 31,Patienten im Alter zwischen drei Monaten und achtzehn Jahren mit voluminösen Hämangiomen und venösen Malformationen mit einem cw-Neodymium:YAG-Laser behandelt. Die Laserfaser wurde in perkutaner und intraläsionaler Technik angewendet. Die Nachbeobachtung über einen Zeitraum von maximal acht Jahren erfolgte mittels klinischer Kontrollen oder einem Patientenfragebogen. Von den insgesamt 31,Patienten konnten 20 ausgewertet werden. Ergebnisse: In der Gruppe der Patienten mit Hämangiomen zeigten drei Patienten eine fast vollständige Rückbildung (> 90 %), zehn Patienten eine partielle Rückbildung (50,,,90 %), in einem Fall zeigte sich ein unveränderter Befund und bei einem Patienten beobachteten wir weiterhin Wachstum. In der Gruppe der Patienten mit venösen Malformationen zeigten zwei Patienten ein exzellentes Ansprechen (> 90 %), ein Patient ein moderates Ansprechen (25,,,50 %) und bei zwei Patienten kam es zu keiner Verbesserung. Nebenwirkungen beinhalteten Narben (40 %), Hyper- und Hypopigmentierungen (23 %), geringe Atrophie (20 %) und eine Hautfältelung. Nach vollständiger Rückbildung waren 30 % der Patienten unzufrieden mit dem Ergebnis und unterzogen sich einer operativen Entfernung der Residuen. Schlußfolgerungen: Der Nd:YAG-Laser mit perkutaner und intraläsionaler Applikationstechnik stellt eine wirksame Methode zur Behandlung ausgewählter Patienten mit Hämangiomen und venösen Malformationen dar. [source] Genetics, epigenetics and pharmaco-(epi)genomics in angiogenesisJOURNAL OF CELLULAR AND MOLECULAR MEDICINE, Issue 6b 2008Ian Buysschaert ,,Introduction ,,Angiogenesis is genetically pre-determined ,,Mutations causing vascular anomalies -,Venous anomalies -,Haemangiomas -,The transforming growth factor-ß in vascular anomalies -,Cerebral cavernous malformations ,,Translocations reveal novel angiogenic genes ,,Single nucleotide polymorphisms shape the angio-genome -,SNPs in VEGF and their association with cancer -,SNPs in VEGF pathway genes associated with other diseases -,Genetic variability in VEGFR-2 -,Genetic variability in HIF-1, -,SNPs in VEGFR-1 integrate angiogenesis within the P53 pathway -,Variations in angiogenic genes are linked with neurodegeneration -,Angiogenic factors in genome-wide association studies ,,Copy number variability affects angiogenesis ,,Epigenetic regulation of angiogenesis -,Methylation of anti-angiogenic factors -,Methylation as a second hit event in cancer -,Histone modifications determine angiogenesis ,,Micromanagers of angiogenesis ,,Perspectives Abstract Angiogenesis is controlled by a balance between pro- and anti-angiogenic factors. Studies in mice and human beings have shown that this balance, as well as the general sensitivity of the endothelium to these factors, is genetically pre-determined. In an effort to dissect this genetic basis, different types of genetic variability have emerged: mutations and translocations in angiogenic factors have been linked to several vascular malformations and haemangiomas, whereas SNPs have been associated with complex genetic disorders, such as cancer, neurodegeneration and diabetes. In addition, copy number alterations of angiogenic factors have been reported in several tumours. More recently, epigenetic changes caused by aberrant DNA methylation or histone acetylation of anti-angiogenic molecules have been shown to determine angiogenesis as well. Initial studies also revealed a crucial role for microRNAs in stimulating or reducing angiogenesis. So far, most of these genetic studies have focused on tumour angiogenesis, but future research is expected to improve our understanding of how genetic variants determine angiogenesis in other diseases. Importantly, these genetic insights might also be of important clinical relevance for the use of anti-angiogenic strategies in cancer or macular degeneration. [source] Sonographically guided percutaneous sclerosis using 1% polidocanol in the treatment of vascular malformationsJOURNAL OF CLINICAL ULTRASOUND, Issue 7 2002Rajeev Jain MD Abstract Purpose The aim of this prospective study was to assess the safety and efficacy of sonographically guided percutaneous injection of 1% polidocanol for sclerosis of peripheral vascular malformations. Methods Patients with vascular malformations of soft tissues were invited to enroll in the study. Gray-scale and color Doppler sonography were performed to determine the texture, margins, and size of the lesions and to determine whether high-velocity blood flow was present. Using real-time sonographic guidance, lesions were punctured with a 20/21-gauge spinal needle. When possible, venous return was occluded before injection. For each injection, 1,6 ml of 1% polidocanol was injected into 1 or more sites within the lesion. The sclerosing agent was not aspirated after injection. Repeat radiography was performed 1 month after each injection session. The procedure was repeated if the patient did not have a complete response, defined as an 80% or greater decrease in the volume of the lesion or resolution of the presenting symptoms. Results Of the 15 patients enrolled, 9 had venous malformations, 3 had lymphangiomas, 1 had a recurrent aneurysmal bone cyst, 1 had a venous pseudoaneurysm, and 1 had an arteriovenous malformation of the pinna. Each patient received 1,20 injections of 1% polidocanol (mean ± standard deviation, 3.3 ± 4.8 injections). This treatment resulted in a complete response of 7 venous malformations, 3 lymphangiomas, and the arteriovenous malformation and partial response of 2 venous malformations, the recurrent aneurysmal bone cyst, and the venous pseudoaneurysm. Only minor complications occurred. Conclusions Sonographically guided percutaneous injection of 1% polidocanol for sclerosis of peripheral vascular lesions is simple, effective, and safe. This technique is especially effective in cases of soft tissue venous malformation and lymphangioma. © 2002 Wiley Periodicals, Inc. J Clin Ultrasound 30:416,423, 2002 [source] Three-dimensional dynamic time-resolved contrast-enhanced MRA using parallel imaging and a variable rate k -space sampling strategy in intracranial arteriovenous malformationsJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 1 2009Mina Petkova MD Abstract Purpose To evaluate the effectiveness of three-dimensional (3D) dynamic time-resolved contrast-enhanced MRA (TR-CE-MRA) using a combination of a parallel imaging technique (ASSET: array spatial sensitivity encoding technique) and a time-resolved method (TRICKS: time-resolved imaging of contrast kinetics) and to compare it with 3D dynamic TR-CE-MRA using ASSET alone in the assessment of intracranial arteriovenous malformations (AVMs). Materials and Methods Twenty consecutive patients with angiographically confirmed AVMs were investigated using both 3D dynamic TR-CE-MRA techniques. Examinations were compared with respect to image quality, spatial resolution, number and type of feeders and drainers, nidus size, presence of early venous filling and temporal resolution. Digital subtraction angiography was used as standard of reference. Results The higher temporal and spatial resolution of 3D dynamic TR-CE-MRA TRICKS ASSET allowed a better assessment of intracranial vascular malformations, namely better depiction of feeders, drainers and better detection of early venous drainage. There was no significant difference between them in terms of nidus size. Conclusion 3D dynamic TR-CE-MRA combining parallel imaging and a time-resolved method with subsecond and submillimeter resolution could become the first-line investigation technique in both diagnosis and follow-up of intracranial AVMs. J. Magn. Reson. Imaging 2009;29:7,12. © 2008 Wiley-Liss, Inc. [source] Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformationsJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 9 2009J Sirvente [source] Hereditary hemorrhagic telangiectasia: from molecular biology to patient careJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 7 2010S. DUPUIS-GIROD Summary., Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on chromosome 9 (coding for endoglin), and HHT type 2 results from mutations in ACVRL1 on chromosome 12 (coding for activin receptor-like kinase 1). Mutations of either of these two genes account for most clinical cases. In addition, mutations in MADH4 (encoding SMAD4), which cause a juvenile polyposis/HHT overlap syndrome, have been described, and recently, an HHT3 locus on chromosome 5 (5q31.3,5q32) has been reported. The mutated genes in HHT encode proteins that modulate transforming growth factor-, superfamily signaling in vascular endothelial cells. Management of patients has changed considerably in the last 20 years, in terms of both treatment and the prevention of complications. The goal of this review was to describe the underlying molecular and cellular physiopathology, explore clinical and genetic diagnostic strategies for HHT, and present clinical management recommendations in order to treat symptomatic disease and to screen for vascular malformations. [source] Cardiovascular collapse during ethanol sclerotherapy in a pediatric patientPEDIATRIC ANESTHESIA, Issue 3 2006G.A. WONG MD FANCZA Summary Ethanol sclerotherapy is a first line management therapy for low flow vascular malformations. It is usually performed under general anesthesia because of the pain associated with ethanol injection. Ethanol sclerotherapy frequently produces minor local complications but may rarely produce catastrophic cardiopulmonary complications. This report describes the cardiovascular collapse associated with an ethanol sclerotherapy procedure in an 11-year- old child. The evidence for ethanol-induced cardiovascular derangements is discussed. [source] Cerebral developmental venous anomalies: Current concepts,ANNALS OF NEUROLOGY, Issue 3 2009Diego San Millán Ruíz MD Cerebral developmental venous anomalies are the most frequently encountered cerebral vascular malformation, and as such, are frequently reported as fortuitous findings in computed tomography (CT) and magnetic resonance imaging (MRI) studies. Developmental venous anomalies (DVAs) are generally considered extreme anatomical variations of the cerebral vasculature, and follow a benign clinical course in the vast majority of cases. Here we review current concepts on DVAs with the aim of helping clinicians understand this complex entity. Morphological characteristics that are necessary to conceptualize DVAs are discussed in depth. Images modalities used in diagnosing DVAs are reviewed, including new MRI or CT techniques. Clinical presentation, association with other vascular malformations and cerebral parenchymal abnormalities, and possible physiopathological processes leading to associated imaging or clinical findings are discussed. Atypical forms of DVAs are also reviewed and their clinical significance discussed. Finally, recommendations as to how to manage asymptomatic or symptomatic patients with a DVA are advanced. Ann Neurol 2009;66:271,283 [source] Histopathological features of Proteus syndromeCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2008S. E. H. Hoey Summary Background., Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. Objective., To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Methods., Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. Results., There were 18 surgical specimens from nine patients, median age 4 years (range 1,9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. Conclusions., The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations. [source] FLUID FLOW IN DISTENSIBLE VESSELSCLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY, Issue 2 2009CD Bertram SUMMARY 1Flow in single vascular conduits is reviewed, divided into distended and deflated vessels. 2In distended vessels with pulsatile flow, wave propagation and reflection dominate the spatial and temporal distribution of pressure, determining the shape, size and relative timing of measured pressure waveforms, as well as the instantaneous pressure gradient everywhere. Considerable research has been devoted to accessing the information on pathological vascular malformations contained in reflected waves. Slow waves of contraction of vessel wall muscle, responsible for transport of oesophageal, ureteral and gut contents, have also been modelled. 3The pressure gradient in a vessel drives the flow. Flow rate can be predicted both analytically and numerically, but analytical theory is limited to idealized geometry. The complex geometry of biological system conduits necessitates computation instead. Initially limited to rigid boundaries, numerical methods now include fluid,structure interaction and can simultaneously model solute transport, thus predicting accurately the environment of the mechanosensors and chemosensors at vessel surfaces. 4Deflated vessels display all phenomena found in distended vessels, but have additional unique behaviours, especially flow rate limitation and flow-induced oscillation. Flow rate limitation is widespread in the human body and has particular diagnostic importance in respiratory investigation. Because of their liquid lining, the pulmonary airways are also characterized by important two-phase flows, where surface tension phenomena create flows and determine the patency and state of collapse of conduits. 5Apart from the vital example of phonation, sustained self-excited oscillation is largely avoided in the human body. Where it occurs in snoring, it is implicated in the pathological condition of sleep apnoea. [source] | |||||||||||||||||||||||||||||||