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    [Vascular anomalies. Part II: vascular malformations].
    Chirurg 2018 Apr;89(4):319-330
    Klinik und Poliklinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum, Universität zu Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
    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. Read More

    Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation.
    Asia Pac J Ophthalmol (Phila) 2018 Mar-Apr;7(2):95-98. Epub 2017 Dec 27.
    Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL.
    Purpose: The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes.

    Design: Retrospective case series. Read More

    Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report.
    JBJS Case Connect 2017 Jul-Sep;7(3):e73
    1Department of Orthopaedics, West Virginia University School of Medicine, Robert C. Byrd Health Sciences Center, Morgantown, West Virginia.
    Case: A 66-year-old Caucasian man with Klippel-Trenaunay-Weber syndrome (KTWS) presented with chronic changes related to the KTWS, along with worsening pain and motion associated with residual damage from an episode of spontaneous septic arthritis that occurred 1 year prior. He underwent total joint arthroplasty with a rotating hinged knee implant.

    Conclusion: Arthroplasty is a treatment option for patients with KTWS; however, there are risks that must be considered. Read More

    Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review.
    Acta Neurochir (Wien) 2018 Feb 1;160(2):287-290. Epub 2017 Dec 1.
    Department of Neurosurgery, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.
    Klippel-Trenaunay-Weber syndrome (KTWS) involves a triad of conditions, including cutaneous hemangiomas, venous varicosities, and osseous and soft-tissue hypertrophy of the affected limb. We describe a rare case of multiple cavernomas in the central nervous system in a patient with KTWS. A-64-year-old man with KTWS and a previous brain hemorrhage presented with sudden onset of gait and vesicorectal disturbance. Read More

    Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition.
    Clin Pediatr (Phila) 2017 Oct 1:9922817737088. Epub 2017 Oct 1.
    3 University of Texas Southwestern Medical Center at Dallas, TX, USA.
    Cutaneous vascular malformations are rare disorders that are often confused with more common infantile hemangiomas. We report the case of a female infant who presented with phacomatosis pigmentovascularis type IIA with features of Klippel-Trenaunay-Weber syndrome. Read More

    Pharmacomechanical Thrombectomy of Superficial Venous Thrombosis in Sturge-Weber and Klippel-Trénaunay Overlap Syndrome.
    J Vasc Interv Radiol 2017 Nov;28(11):1609-1611.e1
    Section of Vascular Interventional Radiology, Medical Imaging Department, King Abdulaziz Medical City, National Guards Health Affairs, P.O. Box 22490, Riyadh 11426, Saudi Arabia.

    Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review.
    World Neurosurg 2018 Jan 17;109:333-337. Epub 2017 Oct 17.
    Department of Neurological Surgery, Nippon Medical School, Tokyo, Japan.
    Background: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disorder characterized by the classic triad of cutaneous nevi, venous varicosities, and osseous and soft tissue hypertrophy of the affected limb. Various vascular anomalies of the central nervous system have also been described in patients with KTWS. The English language literature to date contains 6 reports of associations between KTWS and spinal cord cavernous angioma (CA), but management of these patients has not been well described. Read More

    Multimodal Imaging in Klippel-Trénaunay-Weber Syndrome: Clinical Photography, Computed Tomoangiography, Infrared Thermography, and 99mTc-Phytate Lymphoscintigraphy.
    Clin Nucl Med 2017 Dec;42(12):976-977
    From the *Department of Thoracic and Cardiovascular Surgery and †Nuclear Medicine, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea.
    We report the case of a 19-year-old man who presented with a 12-year history of progressive fatigue, feeling hot, excessive sweating, and numbness in the left arm. He had undergone multimodal imaging and was diagnosed as having Klippel-Trénaunay-Weber syndrome (KTWS). This is a rare congenital disease, defined by combinations of nevus flammeus, venous and lymphatic malformation, and hypertrophy of the affected limbs. Read More

    Retina 2017 Sep 20. Epub 2017 Sep 20.
    *Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania; †Ophthalmological Unit, Department of Clinical Sciences and Community Health, Ca' Granda Foundation-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy; and ‡Department of Biomedical and Clinical Science "Luigi Sacco", Eye Clinic, Luigi Sacco Hospital, University of Milan, Milan, Italy.
    Purpose: To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome.

    Methods: Retrospective review of 5 patients.

    Results: In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. Read More

    Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report.
    J Med Case Rep 2017 Aug 21;11(1):243. Epub 2017 Aug 21.
    Department of Internal Diseases, Riga Stradins University, Riga, Latvia.
    Background: Klippel-Trenaunay-Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome have been published.

    Case Presentation: We report the case of a 40-year-old white man with a typical clinical presentation of Klippel-Trenaunay-Weber syndrome, including "port-wine stains," varicose veins, hypertrophy of lower extremities, and arteriovenous fistula, as well as an unfortunate development of hypersplenism and nephrotic syndrome.

    Conclusions: This case report described considerable atypical relevance of Klippel-Trenaunay-Weber syndrome and hypersplenism together with nephrotic syndrome. Read More

    Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
    Pediatr Radiol 2017 Aug 4;47(9):1196-1208. Epub 2017 Aug 4.
    Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
    Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More

    A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma.
    Indian J Ophthalmol 2017 Jul;65(7):623-625
    Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.
    A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Read More

    [Intravenous Ablation for Lower Extremity Varices to Prevent Recurrent Pulmonary Embolism in Klippel-Trenaunay Syndrome;Report of a Case].
    Kyobu Geka 2017 Jul;70(7):504-506
    Department of Cardiovascular Surgery, Totsuka Kyoritsu Daini Hospital, Yokohama, Japan.
    Klippel-Trenaunay syndrome( KTS) is a complex congenital anomaly characterized by lower extremity varix and venous malformations, port-wine stains, and soft tissue and bone hypertrophy. We present a case of a 35-year-old man of KTS with pulmonary embolism (PE). The patient was referred to our hospital complaining of the leg pain and sudden onset of dyspnea. Read More

    Hemoptysis: Beyond routine chest computed tomography and bronchoscopy.
    Lung India 2017 Jul-Aug;34(4):368-371
    Metro Centre for Respiratory Diseases, Metro Multispeciality Hospital, Noida, Uttar Pradesh, India.
    Hemoptysis is considered as a medical emergency which requires urgent stabilization with identification and correction of underlying etiology. Diagnosis of the cause of hemoptysis is not always readily identified after bronchoscopy and conventional computed tomography (CT) chest. Arteriovenous malformation (AVM) is a rare but important cause of massive hemoptysis which can be easily picked up by the use of double turn contrast CT chest. Read More

    Unique Considerations in Spinal Cord Stimulator Placement in Pediatrics: A Case Report.
    A A Case Rep 2017 Aug;9(4):112-115
    From the Department of Anesthesiology Critical Care Medicine, Children's Hospital Los Angeles, Los Angeles, California.
    Spinal cord stimulation can be a valuable treatment option in the management of neuropathic pain in select pediatric patients. We present a unique case of a 16-year-old girl with Klippel-Trenaunay-Weber syndrome and scoliosis who required the placement of a spinal cord stimulator (SCS) for severe sciatic nerve neuropathic pain after a right above-knee amputation. Several attempts at lead placement were required before successful pain coverage was achieved because of late recognition of significant vertebral body rotation. Read More

    Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
    Am J Med Genet A 2017 Apr;173(4):978-984
    Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
    Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c. Read More

    Thoracic Manifestations of Klippel-Trenaunay Syndrome.
    J Thorac Imaging 2017 May;32(3):W5-W6
    *Department of Radiology, Brigham and Women's Hospital, Boston, MA †Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
    Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by venous malformations and a predisposition to pulmonary embolism. We reviewed the imaging findings of 7 adult patients with KTS who underwent thoracic CT. While the superficial manifestations of KTS predominantly affect the extremities, patients frequently develop abnormalities of the pulmonary arterial system, particularly chronic thromboembolic pulmonary hypertension. Read More

    Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.
    Sudan J Paediatr 2016 ;16(2):86-92
    Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Saud University Medical City , King Saud University, Riyadh , Saudi Arabia.
    Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder. It is typically characterized by unilateral, posterior leptomeningeal angiomas that calcify, glaucoma, and facial portwine tains. Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by ipsilateral cutaneous capillary malformations, venous varicosities, and bony or soft tissue overgrowth of the affected limbs. Read More

    Quality of life in adults with facial port-wine stains.
    J Am Acad Dermatol 2017 Apr 9;76(4):695-702. Epub 2016 Dec 9.
    University of California Irvine, Department of Dermatology, Irvine, California.
    Background: Facial port-wine stains (PWS) are considered by some an aesthetic skin problem, yet impact on quality of life (QoL) has not been objectively documented.

    Objective: We sought to (1) characterize the effect of PWS on QoL in adults, (2) to identify the clinical and demographic factors that affect QoL, and (3) to compare our results with QoL studies in other skin conditions.

    Methods: In total, 244 adults with facial PWS completed an online QoL survey, which included the Skindex-29 instrument. Read More

    Klippel Trenaunay Syndrome: A Case Report.
    Mymensingh Med J 2016 10;25(4):776-779
    Dr Md Nazrul Islam, Assistant Professor, Department of Neonatology, Mymensingh Medical College, Mymensingh, Bangladesh; E-mail;
    Klippel Trenaunay syndrome refers to a rare congenital anomaly which is characterized by capillary malformation, venous malformation and sometimes lymphatic malformation associated with overgrowth of a limb, with soft tissue hypertrophy and/or bony hypertrophy. The anomaly, if present, is present at birth and usually involves the lower limbs as well as portion of trunk, face, uppper limb or head. Our reporting case is a preterm male neonate having port wine stain, varicose veins and excessive growth of soft tissue of left lower limb clinically consistent with Klippel Trenaunay Syndrome. Read More

    Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
    Am J Med Genet A 2017 Feb 30;173(2):352-359. Epub 2016 Nov 30.
    Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
    Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Read More

    Klippel-Trenaunay Syndrome: A Case Report.
    J Nepal Health Res Counc 2016 May;14(33):135-139
    Kanti Children Hospital, Kathmandu, Nepal.
    Klippel-Trenaunaysyndrome(KTS) is a rare congenital condition usually presenting with port wine stains, excessive growth of bones and soft tissue and varicose veins which most commonly occurs in the legs, but it also may affect the arms, face, head, or internal organs. We report a case of term male neonate with clinical findings of Port-wine stain, multiple cystic swellings with ultrasonographic findings suggestive of vascular malformations and limb abnormalities in the form ofsoft tissue hypertrophy of right upper limb, polydactyly of right hand and syndactyly of left hand consistent withKlippel-Trenaunay syndrome. Read More

    The pathobiology of vascular malformations: insights from human and model organism genetics.
    J Pathol 2017 Jan 4;241(2):281-293. Epub 2016 Dec 4.
    Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.
    Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. Read More

    Patients with Klippel-Trenaunay syndrome.
    Bratisl Lek Listy 2016 ;117(10):601-604
    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. Read More

    Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome.
    Acta Neurochir (Wien) 2017 Feb 7;159(2):397-400. Epub 2016 Nov 7.
    Department of Neurosurgery, Maastricht University Medical Centre, PO Box 5800, 6202, AZ, Maastricht, The Netherlands.
    We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome. Read More

    Diffuse Cavernous Hemangioma of the Colon.
    Acta Gastroenterol Belg 2016 Jul-Sep;79(3):393-394
    A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the rectum (Figure 1). Abdominal CT showed multiple nodular lesions beginning from the distal descending colon and extending to the rectum, calcifications suggesting phleboliths were also seen in these lesions. A contrast enhanced pelvic MRI demonstrated multiple tubular lesions showing hyperintensity on T2-weighted images and hypointensity on T1-weighted images, consistent with the affected areas on the CT scan (Figure 2). Read More

    Abdominal vascular syndromes: characteristic imaging findings.
    Radiol Bras 2016 Jul-Aug;49(4):257-263
    Tenured Associate Professor in the Department of Diagnostic Imaging of the Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.
    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. Read More

    Diffuse Elevated Abdominal Activity on 99mTc-Labeled Red Blood Cell Imaging in a Pediatric Patient With Klippel Trenaunay Syndrome.
    Clin Nucl Med 2016 Nov;41(11):899-901
    From the Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
    Klippel Trenaunay syndrome commonly manifests as lower limb hypertrophy where vascular malformation occurs. However, up to 20% of patients with Klippel Trenaunay syndrome can have gastrointestinal involvement. An 18-year-old man with known Klippel Trenaunay syndrome in the left lower extremity underwent Tc-labeled red blood cell imaging to determine the site of gastrointestinal bleeding. Read More

    Overgrowth Syndromes.
    J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.
    Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More

    Initial Experience With Propranolol Treatment of Lymphatic Anomalies: A Case Series.
    Pediatrics 2016 Sep 25;138(3). Epub 2016 Aug 25.
    Departments of Surgery, Obstetrics & Gynecology, College of Physicians and Surgeons, New York, New York; and
    Lymphatic malformations (LMs) are congenital lymphatic lesions that impose significant and costly morbidities on affected patients. Treatment options are limited due to incomplete understanding of LM pathobiology. Expression of an activated β2-adrenergic receptor has been described in LM tissue, suggesting that this pathway may contribute to the clinical manifestations of LM. Read More

    Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin.
    Hum Mol Genet 2016 12;25(23):5094-5110
    The Center for Cardiovascular Genetics, Department of Molecular Cardiology, NE40, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
    Aggf1 is the first gene identified for Klippel-Trenaunay syndrome (KTS), and encodes an angiogenic factor. However, the in vivo roles of Aggf1 are incompletely defined. Here we demonstrate that Aggf1 is essential for both physiological angiogenesis and pathological tumour angiogenesis in vivo. Read More

    Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
    Phlebology 2017 Jul 9;32(6):371-383. Epub 2016 Aug 9.
    4 Clinic for Cardiovascular Surgery, University Hospital Zurich, Zurich, Switzerland.
    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). Read More

    Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.
    J Ultrasound Med 2016 Sep 4;35(9):2057-65. Epub 2016 Aug 4.
    School of Health and Rehabilitation Sciences, The Ohio State University, College of Medicine, Columbus, Ohio USA.
    Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. Read More

    Neurocutaneous syndromes.
    Handb Clin Neurol 2016 ;135:565-589
    Division of Neuroradiology, Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. Read More

    Klippel Trenaunay Syndrome: A Case Report in an Adolescent Nigerian Boy.
    Open Access Maced J Med Sci 2015 Jun 28;3(2):322-5. Epub 2015 Mar 28.
    University of Calabar Teaching Hospital, Radiology, University of Calabar, PMB 1115, Nigeria.
    Aim: This is to report a case of Klippel Trenauay Weber syndrome in a fifteen year old Nigerian boy. This is a rare syndrome and it is the first case to be reported in UCTH Calabar.

    Case Presentation: Product of a full term uneventful pregnancy, delivered to non-consanguineous apparently healthy parents. Read More

    Rare Association of Klippel-Trenaunay Syndrome with Large Pulmonary Embolism and Asymmetrical Emphysematous Bullae.
    J Coll Physicians Surg Pak 2016 May;26(5):432-4
    Department of Cardiology, Care Hospital, Surat, Gujarat, India.
    Klippel-Trenaunay syndrome is a rarely encountered congenital disease characterized by a triad of enlarged arteries and veins, limb hypertrophy and capillary malformations. We are presenting an interesting case of a 23-year male who had been previously diagnosed to have Klippel-Trenaunay syndrome. The patient presented with large pulmonary embolism after having undergone laser surgery for varicose veins. Read More

    A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics.
    Respir Med Case Rep 2016 25;17:68-70. Epub 2016 Jan 25.
    Department of Pulmonary Medicine, Jamaica Hospital Medical Center, Jamaica, NY, United States.
    Klippel - Trenaunay - Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism. Read More

    Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report.
    J Neurosurg Spine 2016 Aug 25;25(2):234-8. Epub 2016 Mar 25.
    Parkes Weber syndrome (PWS) is a congenital overgrowth disorder characterized by unilateral limb and axial hypertrophy, capillary malformations of the skin, and high-flow arteriovenous fistulas (AVFs). Spinal AVFs in the setting of PWS are challenging vascular lesions that often contain multiple arteriovenous (AV) shunts. The present case report highlights an adolescent girl with PWS who presented with a ruptured complex high-flow conus medullaris AVF. Read More

    Combined Lymphedema and Capillary Malformation of the Lower Extremity.
    Plast Reconstr Surg Glob Open 2016 Feb 10;4(2):e618. Epub 2016 Feb 10.
    Department of Plastic and Oral Surgery, and Department of Radiology, Vascular Anomalies Center, Lymphedema Program Boston Children's Hospital, Harvard Medical School, Boston, Mass.
    Unlabelled: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel-Trenaunay and Parkes Weber). Read More

    Mosaic Neurocutaneous Disorders and Their Causes.
    Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

    Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis.
    Indian Pediatr 2015 Nov;52(11):987-8
    Department of Neonatology, Fortis Hospital, Noida, Uttar Pradesh, India. Correspondence to: Dr Supriya Bisht, Department of Neonatology, Fortis Hospital, B-22, Sector 62, Noida, Uttar Pradesh, India.
    Background: Klippel-Trenaunay-Weber Syndrome is a rare syndrome, consisting of vascular malformation of blood and lymph vessels.

    Case Characteristics: A newborn female with respiratory distress from birth, and having vascular malformation involving left thigh.

    Observation: The neonate also had hydronephrosis and developed complication of Kasabach Merritt syndrome. Read More

    Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero.
    J Med Ultrason (2001) 2015 Jan 3;42(1):109-12. Epub 2014 Jul 3.
    Department of Obstetrics and Gynecology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-8611, Japan.
    Klippel-Trenaunay-Weber syndrome (KTWS), a congenital disease characterized by cutaneous hemangiomas, soft tissue and bone hypertrophy, and occasionally arteriovenous malformations, is extremely rare and its natural history in utero is unknown. We present a prenatally diagnosed case of KTWS complicated with Kasabach-Merritt syndrome in utero and fetal hydrops from acute anemia. The fetus was diagnosed with KTWS at 24 weeks of gestation based on the ultrasound findings of hemangiomas and unilateral hypertrophy of the lower extremity. Read More

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