1,320 results match your criteria Klippel-Trenaunay-Weber Syndrome


Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.

Radiographics 2019 Mar-Apr;39(2):491-515

From the Divisions of Pediatric Radiology (F.B., K.A.B., C.M.H., A.E.G., S.S.M.) and Interventional Radiology and Image Guided Medicine (F.B., C.M.H., A.E.G.), Department of Radiology and Imaging Sciences; and Department of Hematology and Medical Oncology (M.A.B.), Emory University School of Medicine, 1364 Clifton Rd NE, Suite D112, Atlanta, GA 30322; and Vascular Anomalies Clinic (F.B., K.A.B., C.M.H., A.E.G., M.A.B., R.S., S.S.M.) and Aflac Cancer and Blood Disorders Center (M.A.B.), Children's Healthcare of Atlanta, Atlanta, Ga.

Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. Radiologists who are aware of congenital limb length discrepancies can make specific diagnoses based on imaging findings. Read More

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http://dx.doi.org/10.1148/rg.2019180136DOI Listing
March 2019
1 Read

Vesical Hemangioma in a Patient with Klippel-Trenaunay-Weber Syndrome.

J Pediatr 2019 Feb 5. Epub 2019 Feb 5.

Department of Pediatric Nephrology, Ghent University Hospital, Gent, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2019.01.011DOI Listing
February 2019

An unusual cause of postmenopausal vaginal haemorrhage: a case report.

BMC Womens Health 2019 Feb 7;19(1):31. Epub 2019 Feb 7.

The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, 145, Guang-yuan Road, Xuhui District, Shanghai, 200030, China.

Background: Post-menopause vaginal haemorrhage is typically related to gynaecological malignancies. Bleeding from vaginal varices rarely occurs, especially in nonpregnant women. Moreover, nonpregnancy-related causes of vaginal varicosities include portal hypertension, especially that caused by liver cirrhosis, pelvic congestion syndrome and Klippel-Trenaunay syndrome or Parkes-Weber syndrome. Read More

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https://bmcwomenshealth.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s12905-019-0731-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367833PMC
February 2019
4 Reads
1.657 Impact Factor

Apixaban for the Treatment of Chronic Disseminated Intravascular Coagulation: A Report of Two Cases.

Hamostaseologie 2018 Nov 19. Epub 2018 Nov 19.

Department of Oncology and Hematology, BMT with Section of Pneumology, Hubertus Wald Tumorzentrum - University Cancer Center Hamburg, University Medical Center Eppendorf, Hamburg, Germany.

Characteristic features of disseminated intravascular coagulation (DIC) are the opposing risks of bleeding (due to consumptive coagulopathy and hyperfibrinolysis) and organ failure (due to widespread microvascular thromboses). The purpose of anticoagulation in DIC is to attenuate excessive thrombin generation and fibrin deposition. While heparins have been shown to be beneficial in this context, the safety and efficacy of direct oral anticoagulants have not yet been sufficiently addressed. Read More

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http://dx.doi.org/10.1055/s-0038-1675386DOI Listing
November 2018
1 Read

Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome.

Cir Cir 2018 ;86(6):566-569

Department of Surgery Division of Surgical Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Angiosarcomas are neoplasms of blood or lymphatic vessels with aggressive behavior. We report the coexistence of this malignancy within soft tissue of the breast in a 49-year-old woman who was diagnosed with Klippel-Trenaunay-Weber syndrome (KTW-S) during childhood. The patient has no previous history of radiation therapy on the chest and does not have any known risk factor for developing angiosarcoma, except for her congenital disease. Read More

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http://www.cirugiaycirujanos.com/files/p4214bx176-circir-6--
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http://dx.doi.org/10.24875/CIRU.18000306DOI Listing
January 2018
11 Reads

Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature.

Curr Med Sci 2018 Oct 20;38(5):925-931. Epub 2018 Oct 20.

Department of Interventional Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Klippel-Trénaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone hypertrophy, and varicose veins. For the purpose of describing the imaging findings and elucidating the role of medical imaging in the diagnosis and assessment of patient with KTS, we have reviewed the imaging data of 14 KTS patients. The imaging features on different imaging modalities were analyzed. Read More

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http://link.springer.com/10.1007/s11596-018-1964-4
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http://dx.doi.org/10.1007/s11596-018-1964-4DOI Listing
October 2018
6 Reads

Rectal Venous Malformation Treated by Superior Rectal Artery Embolization.

Cardiovasc Intervent Radiol 2019 Jan 30;42(1):154-157. Epub 2018 Aug 30.

Interventional Radiology Unit, Radiology Department, John Radcliffe Hospital, 2nd Floor, Oxford, OX3 9DU, UK.

A 25-year-old female was referred to the Interventional Radiology Department for investigation and treatment of a rectal venous malformation (RVM) causing large recurrent episodes of rectal bleeding and chronic anaemia. Magnetic resonance imaging (MRI) demonstrated a large venous malformation affecting the rectum, lower pelvis and left thigh. After three failed attempts at injection foam sclerotherapy using fluoroscopic colonoscopy, a multidisciplinary team proposed an embolization procedure of the arterial inflow to the venous malformation. Read More

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http://dx.doi.org/10.1007/s00270-018-2067-0DOI Listing
January 2019

Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review.

Authors:
Rati Chadha

Case Rep Obstet Gynecol 2018 12;2018:6583562. Epub 2018 Jul 12.

Department of Obstetrics and Gynecology; Division of Maternal Fetal Medicine, Foothills Medical Center, University of Calgary, Calgary, AB, Canada.

Background: Klippel-Trenaunay-Weber syndrome is a rare neurocutaneous syndrome with vascular involvement. Given the rarity of the syndrome, its management in pregnancy is based on the outcome of a few case reports and expert opinion.

Case Summary: The management of a complicated case with its antepartum, intrapartum, and postpartum concerns has been addressed in this review. Read More

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https://www.hindawi.com/journals/criog/2018/6583562/
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http://dx.doi.org/10.1155/2018/6583562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077650PMC
July 2018
17 Reads

Klippel-Trenaunay Syndrome: A Dramatic Presentation.

Eur J Vasc Endovasc Surg 2018 08 13;56(2):299. Epub 2018 Jul 13.

Vascular Surgery Unit, University of Pisa, Via Paradisa 2, Pisa 56124, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejvs.2018.06.012DOI Listing
August 2018
2 Reads

Port-wine stain as a clue for two rare coexisting entities.

BMJ Case Rep 2018 Jul 13;2018. Epub 2018 Jul 13.

Department of Dermatovenereology, Hospital de Braga, Braga, Portugal.

Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities. Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. Read More

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http://dx.doi.org/10.1136/bcr-2018-225721DOI Listing
July 2018
4 Reads

Walking hyponatremia syndrome of inappropriate antidiuretic hormone secretion secondary to carbamazepine use: a case report.

J Med Case Rep 2018 Jul 11;12(1):202. Epub 2018 Jul 11.

Facultad de Medicina, Universidad Francisco Marroquín, 6 Avenida 7-55, zona 10, 01010, Guatemala City, Guatemala.

Background: Severe hyponatremia is rare when carbamazepine is used as monotherapy. It is common to encounter this imbalance in the hospital setting, but rare in the ambulatory one. Here, we present a case of hyponatremia secondary to carbamazepine use in an otherwise asymptomatic patient. Read More

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http://dx.doi.org/10.1186/s13256-018-1744-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040056PMC
July 2018
5 Reads

Klippel-Trenaunay and Parkes-Weber syndromes: two case reports.

J Vasc Bras 2017 Oct-Dec;16(4):320-324

Universidade de São Paulo - USP, School of Medicine, Unit of Interventional Radiology, São Paulo, SP, Brazil.

Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. Read More

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http://dx.doi.org/10.1590/1677-5449.005417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944310PMC
June 2018
3 Reads

Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 07;6(4):511-516

Division of Vascular and Interventional Radiology, Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address:

Objective: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE).

Methods: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S2213333X183012
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http://dx.doi.org/10.1016/j.jvsv.2018.01.015DOI Listing
July 2018
14 Reads

Gastrointestinal tract involvement in Klippel-Trénaunay syndrome.

Lancet Gastroenterol Hepatol 2018 07;3(7):518

Department of Gastroenterology, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile. Electronic address:

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http://dx.doi.org/10.1016/S2468-1253(18)30140-7DOI Listing

Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome.

J Am Acad Dermatol 2018 Nov 5;79(5):899-903. Epub 2018 Jun 5.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

Background: Klippel-Trenaunay syndrome (KTS) is characterized by the triad of capillary malformation, venous malformation with or without lymphatic malformation, and limb overgrowth. Patients with KTS have lower scores in general in mental health, physical function, and quality of life than the general population.

Objective: To determine the prevalence of pain and psychiatric comorbidity in patients with KTS. Read More

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http://dx.doi.org/10.1016/j.jaad.2018.05.1245DOI Listing
November 2018
9 Reads

Management of giant embryonic vein in Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 07;6(4):523-525

Division of Vascular and Interventional Radiology, Mayo Clinic, Rochester, Minn.

Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S2213333X183015
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http://dx.doi.org/10.1016/j.jvsv.2018.04.005DOI Listing
July 2018
2 Reads

Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension.

BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.

Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22462
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http://dx.doi.org/10.1136/bcr-2018-224621DOI Listing
March 2018
9 Reads

An Inferior Vena Cava Aneurysm in a Patient with Klippel-Trenaunay Syndrome.

Ann Vasc Surg 2018 Jul 5;50:300.e1-300.e3. Epub 2018 Mar 5.

Academic Section of Vascular Surgery, Imperial College London, 4 North Charing Cross Hospital, London, UK.

Aneurysms of the inferior vena cava (IVC) are rare, with only 54 cases reported in the literature. They carry a significant morbidity and mortality risk. A case of an IVC aneurysm in a patient with Klippel-Trenaunay syndrome (KTS) is reported. Read More

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http://dx.doi.org/10.1016/j.avsg.2018.01.092DOI Listing
July 2018
2 Reads

Lymphangioma Circumscriptum in Vulva with Klippel-Trenaunay Syndrome.

Chin Med J (Engl) 2018 Feb;131(4):490-491

Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.

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http://dx.doi.org/10.4103/0366-6999.225066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830838PMC
February 2018
4 Reads

[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

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http://dx.doi.org/10.1007/s00104-017-0572-3DOI Listing
April 2018
5 Reads

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

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http://dx.doi.org/10.22608/APO.2017447DOI Listing
May 2018
20 Reads

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

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http://Insights.ovid.com/crossref?an=01709767-201707030-0003
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http://dx.doi.org/10.2106/JBJS.CC.15.00256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817987PMC
August 2018
3 Reads

Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 03 8;6(2):230-236. Epub 2017 Dec 8.

Paediatric Surgery Division, La Paz Children's Hospital, Madrid, Spain.

Objective: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS. Read More

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http://dx.doi.org/10.1016/j.jvsv.2017.09.011DOI Listing
March 2018
11 Reads

Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review.

Acta Neurochir (Wien) 2018 02 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

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http://dx.doi.org/10.1007/s00701-017-3408-5DOI Listing
February 2018
14 Reads

Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition.

Clin Pediatr (Phila) 2019 Apr 25;58(4):485-487. Epub 2017 Oct 25.

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

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http://dx.doi.org/10.1177/0009922817737088DOI Listing
April 2019
9 Reads

Pharmacomechanical Thrombectomy of Superficial Venous Thrombosis in Sturge-Weber and Klippel-Trénaunay Overlap Syndrome.

J Vasc Interv Radiol 2017 11;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.

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http://dx.doi.org/10.1016/j.jvir.2017.06.010DOI Listing
November 2017
6 Reads

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

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http://dx.doi.org/10.1016/j.wneu.2017.10.040DOI Listing
January 2018
18 Reads

A case of an inverse Klippel-Trenaunay Syndrome.

G Ital Dermatol Venereol 2017 12;152(6):674-675

Department of Dermatology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.23736/S0392-0488.16.05403-1DOI Listing
December 2017
18 Reads

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

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http://dx.doi.org/10.1097/RLU.0000000000001875DOI Listing
December 2017
6 Reads

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME.

Retina 2018 Nov;38(11):2220-2227

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

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

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http://dx.doi.org/10.1097/IAE.0000000000001856DOI Listing
November 2018
18 Reads

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

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/s13256-017-1413-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563946PMC
August 2017
19 Reads

Transcatheter embolization of persistent embryonic veins in venous malformation syndromes.

J Vasc Surg Venous Lymphat Disord 2017 09;5(5):749-755

Division of Hematology and Oncology, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ; Cancer Institute of New Jersey at the Bristol-Myers Squibb Children's Hospital, Robert Wood Johnson University Hospital, New Brunswick, NJ.

Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence. Read More

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http://dx.doi.org/10.1016/j.jvsv.2017.05.016DOI Listing
September 2017
21 Reads

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

Am J Med Genet A 2017 10 6;173(10):2831-2833. Epub 2017 Aug 6.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38363DOI Listing
October 2017
4 Reads

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

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http://dx.doi.org/10.1007/s00247-017-3906-xDOI Listing
August 2017
12 Reads

Klippel-Trenaunay syndrome: diagnosis in a neonate.

BMJ Case Rep 2017 Jul 24;2017. Epub 2017 Jul 24.

Department of Paediatrics, Neonatology Unit, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.

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http://dx.doi.org/10.1136/bcr-2017-221011DOI Listing
July 2017
2 Reads

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

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http://www.ijo.in/text.asp?2017/65/7/623/211129
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http://dx.doi.org/10.4103/ijo.IJO_8_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5549420PMC
July 2017
15 Reads

[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

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July 2017
47 Reads

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

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http://dx.doi.org/10.4103/lungindia.lungindia_456_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504895PMC
July 2017
7 Reads

Klippel-Trenauney syndrome with axillary hyperhidrosis.

Dermatol Online J 2017 Jun 15;23(6). Epub 2017 Jun 15.

MD Program, Tufts University School of Medicine, Boston, Massachusetts,.

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. Read More

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June 2017
5 Reads

Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2017 07;5(4):587-595

Department of Surgery, Indiana University School of Medicine, Indianapolis, Ind; Division of Vascular Surgery, Indiana University School of Medicine, Indianapolis, Ind. Electronic address:

Objective: A dearth of information exists in the literature regarding current practice in the management of Klippel-Trénaunay syndrome (KTS), a rare condition. We review and describe the etiology, diagnosis, and treatment of KTS.

Methods: Relevant data were synthesized from a Medline review using a combination of the keyterms "Klippel" and "Trénaunay. Read More

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http://dx.doi.org/10.1016/j.jvsv.2016.10.084DOI Listing
July 2017
36 Reads

Near-infrared fluorescence lymphatic imaging of Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2017 07;5(4):533-537

The Brown Foundation Institute of Molecular Medicine, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, Tex.

The relationship between lymphatic and venous malformations in Klippel-Trénaunay syndrome is difficult to assess. Herein the authors describe near-infrared fluorescence lymphatic imaging to assess the lymphatics of a subject with a large port-wine stain and right leg edema. Although lymphatic vessels in the medial, affected knee appeared dilated and perhaps tortuous, no definitive abnormal lymphatic pooling or propulsion was observed. Read More

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http://dx.doi.org/10.1016/j.jvsv.2017.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474947PMC
July 2017
4 Reads

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

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http://dx.doi.org/10.1213/XAA.0000000000000541DOI Listing
August 2017
5 Reads

Complications of pregnancy and labour in women with Klippel-Trénaunay syndrome: a nationwide cross-sectional study.

BJOG 2017 Oct 5;124(11):1780-1788. Epub 2017 Jun 5.

Department of Plastic, Reconstructive, and Hand Surgery, Academic Medical Centre (AMC), University of Amsterdam, Amsterdam, the Netherlands.

Objective: To evaluate complications of pregnancy, including thromboembolism, in women with extensive vascular malformations associated with Klippel-Trénaunay syndrome (KTS).

Design: Nationwide cross-sectional study.

Setting: Two tertiary expert centres and the Dutch Klippel-Trénaunay patient organisation. Read More

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http://doi.wiley.com/10.1111/1471-0528.14698
Publisher Site
http://dx.doi.org/10.1111/1471-0528.14698DOI Listing
October 2017
2 Reads

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

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http://dx.doi.org/10.1002/ajmg.a.38105DOI Listing
April 2017
17 Reads

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

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http://dx.doi.org/10.1097/RTI.0000000000000260DOI Listing
May 2017
2 Reads

Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.

Authors:
Amal Y Kentab

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237841PMC
January 2016
3 Reads

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

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http://dx.doi.org/10.1016/j.jaad.2016.10.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790427PMC
April 2017
27 Reads

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

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October 2016
7 Reads

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

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http://dx.doi.org/10.1002/ajmg.a.37868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205266PMC
February 2017
18 Reads

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

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May 2016
6 Reads