1,453 results match your criteria Klippel-Trenaunay-Weber Syndrome


Klippel-Trenaunay syndrome with anorectum involvement and portal hypertension.

Pediatr Int 2022 01;64(1):e15165

Department of Pediatric Surgery, Xi'an International Medical Center Hospital, Xi'an, China.

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January 2022

Surgical shunt ligation for a congenital extrahepatic portosystemic shunt with pulmonary hypertension: A case report.

Int J Surg Case Rep 2022 Apr 2;93:107024. Epub 2022 Apr 2.

Department of Gastroenterological, Breast and Endocrine Surgery, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-Kogushi, Ube, Yamaguchi 755-8505, Japan. Electronic address:

Introduction And Importance: Congenital extrahepatic portosystemic shunt (CEPS) presents with various symptoms due to abnormal communication between the portal venous system and inferior vena cava. And Klippel-Trenaunay-Weber syndrome is another rare congenital disorder characterized by vascular malformations.

Case Presentation: A 16-year-old male with Klippel-Trenaunay-Weber syndrome was referred to our hospital for surgical treatment of pulmonary hypertension due to CEPS since childhood. Read More

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The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes.

Vasc Health Risk Manag 2022 2;18:201-209. Epub 2022 Apr 2.

Department of Clinical Surgical Sciences, University of The West Indies, St. Augustine, Trinidad & Tobago, West Indies.

The Klippel-Trénaunay syndrome is an unusual syndrome of vascular and dermatologic manifestation in which patients demonstrate hemihypertrophy of the soft tissue and bones of one limb, cutaneous haemangiomas and varicosities in anatomically abnormal positions. Described in 1900 by two French physicians, the etiology remained unclear until recently, when evidence emerged that there was a genetic basis for this sporadic disorder. Genes that encoded pathological angiogenic factors and caused vascular dysmorphogenesis, explaining the molecular bases of this syndrome, were identified. Read More

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Is there a place for prophylaxis with DOACs in Klippel-Trenaunay syndrome and other low-flow vascular malformations with intravascular coagulopathy and thromboembolic events?

Thromb Res 2022 May 7;213:30-33. Epub 2022 Mar 7.

Radboudumc Expertise Centre for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Paediatric Haematology, Radboud University Medical Centre, Nijmegen, the Netherlands.

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Undiagnosed Case of Klippel-Trenaunnay Syndrome Presenting as Extensive Heterotrophic Ossification and Flexion Deformity of Right Lower Limb Requiring Amputation : A Case Report.

JNMA J Nepal Med Assoc 2021 Sep 11;59(241):938-941. Epub 2021 Sep 11.

Department of Internal Medicine, Rochester General Hospital, Rochester, USA.

Klippel-Trenaunnay Syndrome is a rare disease characterized by a clinical triad of capillary malformation, soft tissue and bony hypertrophy, and atypical varicosity. This syndrome ranges from asymptomatic disease to life-threatening bleeding, embolism, and deformities. Management includes early diagnosis, prevention, and treatment of complications. Read More

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September 2021

Management of postpartum haemorrhage in a patient with Klippel-Trènaunay syndrome.

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Obstetrics and Gynaecology, North Middlesex University Hospital NHS Trust Ferriman Information and Library Service, London, UK

Klippel-Trènaunay syndrome is a rare congenital disorder characterised by vascular malformations, which may be exacerbated during pregnancy and pose considerable thromboembolic and haemorrhagic risk for obstetric patients. We report on a patient with this syndrome who underwent elective caesarean section which was indicated due to previous obstetric anal sphincter injury. We describe her multidisciplinary preoperative planning and successful management of major postpartum haemorrhage with uterine compression sutures and intrauterine balloon tamponade ('uterine sandwich'). Read More

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February 2022

Klippel-Trénaunay syndrome.

Joint Bone Spine 2022 May 31;89(3):105350. Epub 2022 Jan 31.

Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China. Electronic address:

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Complex Total Hip Arthroplasty in a Patient with Klippel-Trénaunay Syndrome: A Case Report.

JBJS Case Connect 2022 01 12;12(1). Epub 2022 Jan 12.

Foundation for Orthopaedic Research and Education, Tampa, Florida.

Case: Klippel-Trénaunay syndrome (KTS) carries manifestations including skeletal dysplasia and prominent vascular malformations. This report details a case of hip dysplasia in the setting of KTS treated with total hip arthroplasty (THA) requiring preoperative embolization, intraoperative angiography for placement of an iliac artery occlusive balloon, and modular hip arthroplasty components for femoral and acetabular dysplasia. Perioperatively, the patient rehabilitated well and was walking painlessly and unassisted at 3 and 12 months postoperatively. Read More

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January 2022

A Young Woman With Recurrent Rectal Bleeding.

Gastroenterology 2022 04 24;162(4):1045-1047. Epub 2021 Dec 24.

Department of Gastroenterology, the Affiliated Hospital of Southwest Medical University, Luzhou, China; Nuclear Medicine and Molecular Imaging Key Laboratory of Sichuan Province, Luzhou, China. Electronic address:

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Pleural effusion in Klippel-Trenaunay syndrome: an uncommon manifestation.

Interact Cardiovasc Thorac Surg 2022 03;34(4):706-707

Department of Cardiothoracic surgery, Lady Davis Carmel Medical Center, Haifa, Israel.

Klippel-Trenaunay syndrome is characterized by a combination of vascular abnormalities and limb hypertrophy. Pleural effusion as a manifestation of this syndrome is almost never mentioned in the literature. We present a case of persistent bilateral pleural effusion in a patient with Klippel-Trenaunay syndrome and share our experiences treating this scenario. Read More

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Foot Macrodactyly Associated with Klippel-Trenaunay Syndrome.

Ortop Traumatol Rehabil 2021 Oct;23(5):375-380

Department of Orthopedics and Traumatology San Raffaele Hospital, Milan, Italy.

Klippel-Trenaunay syndrome is a rare congenital malformation which may be associated with macrodactyly. The main problem is the need for custom-made shoes. We describe the case of a female newborn affected by Klippel-Trenaunay syndrome, with a larger and longer right foot; the difference increased progressively and, at 5 years of age, the right foot was 50% larger and 38% longer than the left one. Read More

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October 2021

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.

Front Pediatr 2021 7;9:730393. Epub 2021 Oct 7.

Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Vascular birthmarks are common in neonates (prevalence: 20-30%) and mostly incidental findings sometimes with spontaneous regression (salmon patch and nevus simplex). Capillary malformations are found in about 1% and infantile hemangiomas are found in 4% of mature newborns. Vascular malformations are classified according to their most prominent vessel type. Read More

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October 2021

Long-term durability of a Perceval aortic valve implanted inside a calcified homograft root in a patient with Klippel-Trenaunay-Weber syndrome.

J Card Surg 2022 Jan 18;37(1):242-244. Epub 2021 Oct 18.

Department of Cardiothoracic Surgery, Auckland City Hospital, Auckland, New Zealand.

Background And Aims: Perceval valves are sutureless surgical bioprostheses designed for the aortic position. We report on the use of a Perceval sutureless valve for redo aortic valve replacement inside a heavily calcified homograft root in a patient with Klippel-Trenaunay-Weber syndrome.

Materials And Methods: Anonymized patient case data was extracted from hospital electronic records. Read More

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January 2022

Surgical correction of foot equino-cavocarus deformity in Klippel-Trénaunay-Weber syndrome: a case report.

J Surg Case Rep 2021 Oct 12;2021(10):rjab434. Epub 2021 Oct 12.

Medical Intern, King Saud University Medical City, Riyadh, Saudi Arabia.

Klippel-Trénaunay-Weber syndrome (KTWS) is a rare condition characterized by a classic clinical triad. However, it can also have other features, such as cavocarus foot deformity, which is a rare presentation in a patient with KTWS. In this case report, we present our surgical technique of correcting such a complex deformity. Read More

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October 2021

Tracheal Varicose Veins Associated with Klippel-Trenaunay Syndrome.

Anesthesiology 2021 12;135(6):1121

Department of Anesthesiology and Critical Care Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

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December 2021

Persistent sciatic vein.

Folia Morphol (Warsz) 2021 Sep 21. Epub 2021 Sep 21.

Department of Anatomy, Faculty of Medicine, University of Health Sciences, Üsküdar, 38000 İstanbul, Turkey.

Background: Venous anomalies of the lower extremity are a challenge when found as rare variations. Physicians should be aware of morphological variations in this region for correct diagnosis and management of diseases such as deep vein thrombosis.

Materials And Methods: During the routine dissection of the lower extremities of a Caucasian male cadaver, a case of persistent sciatic vein was found. Read More

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September 2021

Parkes-Weber syndrome in the emergency department.

BMJ Case Rep 2021 Sep 20;14(9). Epub 2021 Sep 20.

Depertment of Interventional Radiology, Kaiser Permanente, Sacramento, California, USA.

This case report describes a 20-year-old woman presenting to the emergency department (ED) with unilateral leg swelling. After multiple visits to the ED and workups with rheumatology, dermatology, interventional radiology and genetics, she was finally diagnosed with Parkes-Weber syndrome. The purpose of this case report is to illustrate the common and uncommon presentations, mimickers and work-up of Parkes-Weber syndrome as well as provide a brief overview of vascular malformations in general. Read More

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September 2021

A neonate with Klippel-Trénaunay syndrome: a case report.

J Med Case Rep 2021 Sep 7;15(1):447. Epub 2021 Sep 7.

Department of Surgery, Faculty of Clinical Medicine and Dentistry, Kampala International University Western Campus, Ishaka-Bushenyi, Uganda.

Background: Klippel-Trénaunay syndrome is a rare congenital capillary-lymphatic-venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000.

Case Presentation: We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel-Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Read More

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September 2021

Treatment of Femoral Shaft Fractures in Patients with Klippel-Trénaunay Syndrome: A Report of 2 Cases.

JBJS Case Connect 2021 08 16;11(3). Epub 2021 Aug 16.

Cooper Bone and Joint Institute, Camden, New Jersey.

Cases: Long-bone fractures in patients with Klippel-Trénaunay syndrome (KTS), a rare disorder of the venous, lymphatic, and capillary system, are difficult to treat with many complications. Two patients diagnosed with KTS presented with closed femoral shaft fractures after low-energy falls. Conservative treatment, open reduction internal fixation, and intramedullary nailing resulted in painful nonunions. Read More

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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Genet Med 2021 12 12;23(12):2433-2442. Epub 2021 Aug 12.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU, Dijon, France.

Purpose: PIK3CA pathogenic variants in the PIK3CA-related overgrowth spectrum (PROS) activate phosphoinositide 3-kinase signaling, providing a rationale for targeted therapy, but no drug has proven efficacy and safety in this population. Our aim was to establish the six-month tolerability and efficacy of low-dose taselisib, a selective class I PI3K inhibitor, in PROS patients.

Methods: Patients over 16 years with PROS and PIK3CA pathogenic variants were included in a phase IB/IIA multicenter, open-label single-arm trial (six patients at 1 mg/day of taselisib, then 24 at 2 mg/day). Read More

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December 2021

Gastrointestinal bleeding with Klippel-Trenaunay syndrome: a case report.

BMC Gastroenterol 2021 Aug 5;21(1):315. Epub 2021 Aug 5.

Department of Radiology, The Sixth Affiliated Hospital of Guangxi Medical University: The First People's Hospital of Yulin, No. 495 Jiaoyu Road, Yulin, 537000, China.

Background: Gastrointestinal bleeding caused by gastrointestinal tract involvement in patients with Klippel-Trenaunay syndrome (KTS) is extremely rare and often overlooked. Case presentation A 9-year-old girl who presented with chronic gastrointestinal bleeding was admitted to our hospital. Laboratory examinations revealed microcytic hypochromic anemia and a positive fecal occult blood test. Read More

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Knee Arthroplasty in Klippel-Trénaunay Syndrome with 3-Dimensional-Printed Patient-Specific Instruments: A Case Report.

JBJS Case Connect 2021 07 9;11(3). Epub 2021 Jul 9.

Department of Orthopaedics, Peking University International Hospital, Beijing, China.

Case: Using a multidisciplinary team approach, a cemented posterior-stabilized total knee arthroplasty was performed using 3-dimensional-printed patient-specific instruments (PSI) in a 34-year-old man with symptomatic end-stage knee osteoarthritis secondary to Klippel-Trénaunay syndrome (KTS). At 1-year follow-up, the patient was able to walk without pain and return to work.

Conclusion: Knee arthroplasty is rare in patients with KTS. Read More

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Emerging Role of Sirolimus in the Treatment of Diffuse Venous Malformation in a Woman with Klippel-Trenaunay Syndrome.

Cardiovasc Intervent Radiol 2021 Oct 6;44(10):1672-1674. Epub 2021 Jul 6.

Division of Interventional Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, 1800 Orleans Street, Zayed Tower 7203, Baltimore, MD, 21287, USA.

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October 2021

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Orphanet J Rare Dis 2021 06 10;16(1):267. Epub 2021 Jun 10.

Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium.

Background: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. Read More

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Large abdominal cutaneous bypass that developed naturally in Klippel-Trénaunay syndrome.

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Department of Internal Medicine, Suzu General Hospital, Suzu, Ishikawa, Japan.

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Extensive Cellulitis and Bacteremia Due to Streptococcus Pseudoporcinus in a Child With Klippel-Trenaunay Syndrome.

Pediatr Infect Dis J 2021 08;40(8):e316-e318

From the Department of Paediatrics, Medical School, University of Crete, Heraklion, Crete, Greece.

Streptococcus pseudoporcinus is a newly recognized β-hemolytic streptococcus, that is considered a rare pathogen in adults. Infections in children have not been reported. We describe a child with Klippel-Trenaunay syndrome that developed of S. Read More

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Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome.

Medicina (Kaunas) 2021 Apr 9;57(4). Epub 2021 Apr 9.

Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.

Klippel-Trénaunay Syndrome (KTS) is a genetic vascular malformation involving the capillary, lymphatic, and venous channels. Prenatal sonographic diagnosis of KTS with an enlarged fetal limb is well-known; however, postnatal gynecologic manifestations are rarely reported. KTS can cause clitoromegaly, vulvovaginal hemangioma, and heavy menstrual bleeding. Read More

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Choroidal melanoma in phakomatosis pigmentovascularis with overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

Retin Cases Brief Rep 2021 Apr 16. Epub 2021 Apr 16.

From the Ocular Oncology Service, Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Purpose: T' trunk, along with hemi-hypertrophy of the left side of the face and left upper limb, presented for evaluation of an intraocular mass of the left eye (OS). Anterior examination OS showed diffuse episcleral and iris melanocytosis. Fundus examination OS showed diffuse choroidal melanocytosis as well as an elevated choroidal lesion. Read More

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