1,399 results match your criteria Klippel-Trenaunay-Weber Syndrome

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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Unilateral Lennox-Gastaut syndrome associated with Klippel-Trénaunay syndrome.

Neurosciences (Riyadh) 2021 04;26(2):218-219

From the Division of Pediatric Neurology (Tabarki, Hundallah)Department of Pediatrics, and Department of Neurology (Biary), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

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Major Limb Amputation in Parkes-Weber Syndrome With Refractory Ulceration: A Case Report and Literature Review.

Int J Low Extrem Wounds 2021 Feb 2:1534734620986683. Epub 2021 Feb 2.

Department of Cardiovascular Surgery, Peking University China-Japan Friendship School of Clinical Medicine, Beijing, China.

Parkes-Weber syndrome (PWS) is a rare congenital vascular syndrome consisting of capillary, venous, lymphatic, and arteriovenous malformation. There are many complications of PWS, such as ulceration, bleeding, infection, and cardiac failure. Among them, skin ulceration is one of the thorniest problems in PWS, requiring multidisciplinary approaches for the management. Read More

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February 2021

Truncal Varicosities and Bilateral Port-wine Stain with Spinal Deformities Associated with Klippel-Trenaunay-Weber Syndrome.

Indian J Dermatol 2020 Nov-Dec;65(6):510-513

Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Sohag University, Sohag, Egypt.

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder characterized by asymmetric limb hypertrophy, usually of the lower limbs, as well as vascular anomalies and capillary malformations under the skin, termed as port-wine stain. KTWS is prevalent in all parts of the world. It has a high degree of diversity of the associated malformations. Read More

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January 2021

Pregnancy with Klippel-Trenaunay Syndrome: A Critical Case Report.

Mymensingh Med J 2021 Jan;30(1):238-242

Dr Syeda Sayeeda, Associate Professor, Department of Fetomaternal Medicine, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh: E-mail:

Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease characterized by a triad of cutaneous hemangioma (port-wine stain), varicose veins and bone or soft tissue hypertrophy. Cases of pregnancy complicated by KTS are rare and are associated with an increased risk of thrombo-embolic phenomena and hemorrhage. In this case, 33 years old woman, Para 1 gravida 2 (P1G2) with history of previous cesarean section and diagnosed case of KTS was presented in labour emergency of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh at 36+ weeks of gestation with labour pain. Read More

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January 2021

Sclerotherapy treatment of a large venous malformation invading the bladder wall related to Klippel-Trenaunay syndrome.

BMJ Case Rep 2020 Dec 21;13(12). Epub 2020 Dec 21.

Department of Urology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

We report the case of a 35-year-old woman who presented with recurrent macroscopic haematuria and known diagnosis of Klippel-Trenaunay syndrome. Imaging and cystoscopy identified an extensive venous malformation involving a large area of the bladder wall. Holmium laser therapy was ineffective at obtaining symptom control. Read More

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December 2020

Tongue Reduction for Macroglossia.

J Craniofac Surg 2020 Nov 23. Epub 2020 Nov 23.

Royal Belfast Hospital for Sick Children, Belfast, Northern Ireland.

Introduction: Macroglossia is a term used to describe a large tongue which protrudes outside of the mouth while in a resting position (Balaji, 2013). It is a cardinal sign in children with Beckwith-Wiedemann syndrome and can also be found in children with Down syndrome and Klippel-Trenaunay-Weber syndrome. Macroglossia can lead to airway and feeding difficulties, as well as problems with speech, drooling, and cosmesis. Read More

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November 2020

Pulmonary Manifestations of Skin Disorders in Children.

Pediatr Clin North Am 2021 02;68(1):261-276

Hackensack Meridian School of Medicine, Nutley, NJ 07110, USA.

Systemic diseases often manifest with cutaneous findings. Many pediatric conditions with prominent skin findings also have significant pulmonary manifestations. These conditions include both inherited multisystem genetic disorders such as yellow-nail syndrome, neurofibromatosis type 1, tuberous sclerosis complex, hereditary hemorrhagic telangiectasia, Klippel-Trénaunay-Weber syndrome, cutis laxa, Ehlers-Danlos syndrome, dyskeratosis congenita, reactive processes such as mastocytosis, and aquagenic wrinkling of the palms. Read More

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February 2021

Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma.

J Clin Ultrasound 2021 Mar 30;49(3):254-256. Epub 2020 Jul 30.

Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China.

We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21. Read More

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The anatomic distribution of isolated and syndrome-associated port-wine stain.

Pediatr Dermatol 2021 Jan 10;38(1):77-82. Epub 2020 Nov 10.

Department of Dermatology, Mayo Clinic Rochester, Rochester, MN, USA.

Background/objectives: To determine the role of sex in port-wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome-associated and non-syndrome-associated PWS using modern criteria.

Methods: A retrospective review of PWS patients aged 18 years and younger from 1995 to 2018 seen in the Department of Dermatology at an academic tertiary referral center. Cases were reviewed for sex, anatomic location, and presence of associated syndrome. Read More

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January 2021

Potential Utilization of Lymphoscintigraphy in Patients With Klippel-Trenaunay Syndrome.

Clin Nucl Med 2021 Jan;46(1):25-30

Ultrasonography, Beijing Shijitan Hospital, Capital Medical University, Beijing, People's Republic of China.

Purpose: Klippel-Trenaunay syndrome (KTS) is a rare disease that was characterized by vascular malformation. Lymphatic malformation was also commonly associated with KTS. However, the application of lymphoscintigraphy in the management of patients with KTS was rarely described. Read More

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January 2021

Mechanochemical Endovenous Ablation of Varicose Veins in Pediatric Patients with Klippel-Trénaunay Syndrome: Feasibility, Safety, and Initial Results.

J Vasc Interv Radiol 2021 01 1;32(1):80-86. Epub 2020 Nov 1.

Department of Interventional Radiology, Hospital de Pediatría Prof. J. P. Garrahan, Combate de los Pozos 1881 (1245), Buenos Aires, Argentina. Electronic address:

Purpose: To evaluate feasibility, safety, and results of endovenous mechanochemical ablation (MOCA) for treatment of persistent embryonic and dysplastic veins in pediatric patients with Klippel-Trénaunay syndrome (KTS).

Materials And Methods: Thirteen MOCA procedures were performed in 11 patients (age range, 4-16 years) with KTS and symptomatic persistent embryonic or dysplastic veins during a 24-month period. All patients were evaluated with color Doppler (CD) ultrasound (US), contrast-enhanced MR imaging, and venography to assess the anatomy of the target vessels and patency of the deep venous system. Read More

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January 2021

Spinal Neurovascular Malformations in Klippel-Trenaunay Syndrome: A Single Center Study.

Neurosurgery 2021 02;88(3):515-522

Department of Radiology, Mayo Clinic, Rochester, Minnesota.

Background: A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS.

Objective: To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population. Read More

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February 2021

Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management.

Surv Ophthalmol 2021 May-Jun;66(3):482-492. Epub 2020 Oct 13.

Ophthalmology Unit, Sapienza University of Rome, NESMOS Department, St. Andrea Hospital, Rome, Italy.

Phakomatosis pigmentovascularis is a rare congenital multisystemic disease with variable manifestations where a vascular malformation of the skin is associated with a pigmentary nevus. Ocular involvement includes glaucoma, choroidal hemangioma, and pigmentary alterations that predispose to uveal melanoma. Diagnosis is made on clinical grounds, although recent advances in molecular genetics have better clarified the etiopathogenesis of the condition. Read More

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October 2020

A Rare Cause of Hemoptysis in a 20-Year-Old Man.

Am J Respir Crit Care Med 2020 12;202(12):e146-e148

Department of Interventional Radiology, University of Rochester Medical Center, University of Rochester, Rochester, New York.

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December 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. Read More

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October 2020

A rare case of Klippel-Trenaunay syndrome in association with Sturge-Weber syndrome treated by HMME-PDT.

Photodermatol Photoimmunol Photomed 2020 Nov 2;36(6):490-492. Epub 2020 Aug 2.

Department of Dermatovenereology, West China Hospital of Sichuan University, Chengdu, China.

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November 2020

Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.

Ann Clin Transl Neurol 2020 07 2;7(7):1258-1264. Epub 2020 Jul 2.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, 510080, China.

Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Read More

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A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.

Vascular 2021 Feb 26;29(1):85-91. Epub 2020 Jun 26.

18524Candiolo Cancer Institute FPO-IRCCS, Candiolo, Italy.

Objectives: Somatic mosaicism of gene is currently recognized as the molecular driver of Klippel-Trenaunay syndrome. However, given the limitation of the current technologies, somatic mutations are detected only in a limited proportion of Klippel-Trenaunay syndrome cases and tissue biopsy remains an invasive high risky, sometimes life-threatening, diagnostic procedure. Next generation sequencing liquid biopsy using cell-free DNA has emerged as an innovative non-invasive approach for early detection and monitoring of cancer. Read More

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February 2021

Genitourinary involvement in pediatric patients with Klippel-Trenaunay Syndrome.

Clin Imaging 2020 Nov 10;67:117-120. Epub 2020 Jun 10.

Nemours Children's Hospital, 3535 Nemours Pkwy, Orlando 32827, FL, USA.

Background: Klippel-Trenaunay Syndrome (KTS) is a genetic vascular malformation disorder which induces a variety of phenotypic expression in patients which differ in terms of severity/location. While previous studies have documented genitourinary (GU) complications in adult KTS patients, documentation of the scope and incidence of GU involvement in the pediatric population with imaging findings is currently limited. This study represents the largest KTS genitourinary review to date. Read More

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November 2020

Klippel-Trenaunay-Weber Syndrome Associated with Multiple Cerebral Arteriovenous Malformations: Usefulness of Gamma Knife Stereotactic Radiosurgery in This Syndrome.

World Neurosurg 2020 09 10;141:425-429. Epub 2020 Jun 10.

Gamma-Knife Radiosurgery Unit, Hospital Ruber Internacional, Madrid, Spain.

Background: Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by the presence of a combined vascular malformation of capillaries, veins, and lymphatic vessels; congenital venous abnormalities; and limb hypertrophy. Its association with neurovascular abnormalities is infrequent, and the presence of intracranial arteriovenous malformations (AVMs) is extremely rare.

Case Description: We report a case of a 48-year-old male diagnosed with KTWS who spontaneously presented with a cerebral hemorrhage. Read More

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September 2020

Major Limb Amputations in Patients with Congenital Vascular Malformations.

Ann Vasc Surg 2020 Oct 18;68:201-208. Epub 2020 May 18.

Department of Surgery, Lenox Hill Hospital, Northwell Health System, New York, NY.

Background: The need for major amputations in patients with vascular malformations is rare. This study reviews our contemporary experience with major amputations in patients with vascular malformations.

Methods: A retrospective review from April 2014 to November 2018 identified 993 patients undergoing management of a vascular malformation involving the upper or lower extremity at a tertiary center. Read More

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October 2020

Successful management of Klippel-Trenaunay syndrome in a pregnant Asian woman: A case report.

Medicine (Baltimore) 2020 May;99(19):e19932

Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University.

Rationale: Klippel-Trenaunay Syndrome (KTS) is a congenital vascular disease characterized by cutaneous hemangiomas, venous varicosities, and limb hypertrophy. Although extremely rare in pregnant women, the present vascular alterations may be aggravated, consequent to postural and hormonal changes inherent to the pregnancy. Pregnancy is not advised in KTS women due to increased obstetrical risk. Read More

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Diagnosis of Klippel-Trenaunay syndrome and extensive heterotopic ossification in a patient with a femoral fracture: a case report and literature review.

BMC Musculoskelet Disord 2020 Apr 11;21(1):223. Epub 2020 Apr 11.

Affiliated Anhui Provincial Hospital of Anhui Medical University, Hefei, 230001, Anhui, China.

Background: Klippel-Trenaunay syndrome (KTS) is a rare complex vessel malformation syndrome characterized by venous varicosities, capillary malformations, and limb hypertrophy. However, extensive heterotopic ossification (HO) secondary to this syndrome is extremely rare.

Case Presentation: We report the case of a patient with previously undiagnosed KTS and extensive HO who presented with a femoral fracture secondary to a motor vehicle accident. Read More

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Association Between Klippel-Trenaunay Syndrome and Spontaneous Intracranial Hypotension: A Report of 4 Patients.

World Neurosurg 2020 06 2;138:398-403. Epub 2020 Apr 2.

Division of Neuroradiology, Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.

Background: Klippel-Trenaunay syndrome (KTS) is associated with a wide variety of vascular and neurologic abnormalities, including venolymphatic malformations. A recent report postulated that patients with KTS may also be predisposed to spontaneous intracranial hypotension. We reviewed brain magnetic resonance imaging from 67 patients with KTS and unexpectedly noted findings of cerebrospinal fluid (CSF) hypotension in 4 of them. Read More

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Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States.

Ophthalmic Genet 2020 04 31;41(2):108-124. Epub 2020 Mar 31.

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota. Read More

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Evaluation and management of the lateral marginal vein in Klippel-Trénaunay and other PIK3CA-related overgrowth syndromes.

J Vasc Surg Venous Lymphat Disord 2020 05 20;8(3):482-493. Epub 2020 Feb 20.

Division of Vascular and Endovascular Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:

The lateral marginal vein is an anomalous clinical entity found in association with Klippel-Trénaunay and other PIK3CA-related overgrowth syndromes. Although it is reported to affect <20% of patients with Klippel-Trénaunay syndrome, this venous anomaly has been associated with significant morbidity and mortality attributable to venous hypertension and potentially lethal thromboembolic events. Limited literature exists on the diagnosis and management of this rare anomaly, with most of the reports focusing on retrospective clinical experience at a few centers of excellence. Read More

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Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.

Indian Dermatol Online J 2020 Jan-Feb;11(1):91-93. Epub 2019 Sep 26.

Department of Dermatology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.

Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Read More

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September 2019