The majority of KTWS cases manifest in infancy or childhood [1]. This rare disorder is characterized by the clinical triad of port-wine stain, varicose veins, and hypertrophy of bone and soft tissue, although not all may be present [2]. It typically involves a unilateral extremity, in which the leg is the most frequently affected site [3]. The arms and trunk may be affected as well. Occasionally, multiple limbs are involved.

The port-wine stain, or capillary hemangioma, is the initial sign. It appears as a sharp border on the lateral portion of the limb(s). The hemangioma may be confined to the skin or advanced to the bone and muscle [4], and organs such as the liver, spleen, bladder, large bowel, and others. Hence, vascular malformations that arise in the gastrointestinal (GI) and genitourinary (GU) tracts can cause hematuria, hematochezia, and genital bleeding [5] [6].

Varicosities, which may be apparent at birth, involve a superficial or deep vein of the foot or leg and distribute into the thigh or gluteal region. These may gradually grow in size. Varicose veins produce pain and lymphedema [4], which become worse during pregnancy [7].

The hemihypertrophy stems from the increased bone length and/or the enlarged soft tissue [4]. This is seen at birth and continues to progress during childhood.

Complications

KTWS is associated with severe consequences such as pulmonary embolism [8], thrombophlebitis, coagulopathy, GI and/or GU bleeding [5], and other life-threatening sequelae.

Patients are at risk for developing seizures and various brain pathologies, of which hemimegalencephaly is the most common [9]. Other complications include but are not limited to stroke, arteriovenous malformation, venous malformation, aneurysm, and hydrocephalus.

Physical exam

Remarkable findings include skin lesions described as nevus flammeus, which are pink to purplish in color. Limb asymmetry is typically apparent [9].

• Recurrent Pulmonary Embolism

  We present the case of a woman with KTWS, cor pulmonale, and death due to recurrent pulmonary embolism (PE). [ncbi.nlm.nih.gov]

  He experienced progressive pulmonary hypertension due to recurrent pulmonary embolism, which developed despite adequate anticoagulation. [lymphedemapeople.com]

• Respiratory Distress

  A newborn female with respiratory distress from birth, and having vascular malformation involving left thigh. The neonate also had hydronephrosis and developed complication of Kasabach Merritt syndrome. [ncbi.nlm.nih.gov]

• Cardiomegaly

  Acute enlargement of the hemangiomas and the appearance of new retroperitoneal hemangiomas were detected at 27 weeks, along with skin edema and cardiomegaly. [ncbi.nlm.nih.gov]

  However, ascites increased gradually and clinical signs of fetal cardiac failure as evidenced by cardiomegaly (cardiothoracic dimension ratio of 45%) and increased skin edema that had once decreased after thoracoamniotic shunting necessitated a cesarean [degruyter.com]

  The patient's medications consisted of lisinopril for mild hypertension and cardiomegaly. He had no known drug allergies. Socially, the patient denied alcohol or tobacco abuse. [omicsonline.org]

• Palpitations

  These symptoms may include increased swelling, tingling sensation, change in color and heaviness in the affected limb, fatigue, headache, heart palpitations, exercise intolerance and increase in clotting times. [web.archive.org]

• Gingival Hypertrophy

  The most striking oral feature was generalized severe gingival hypertrophy confirmed histologically, ultrastructurally, and by collagen analysis. [ncbi.nlm.nih.gov]

• Upper Back Pain

  A 23-year-old woman was admitted to our institution with acute onset of leg weakness accompanied by upper back pain. Thoracic magnetic resonance imaging of the spinal cord showed a heterogeneous mass with a slit component at the T1-2 level. [ncbi.nlm.nih.gov]

• Short Trunk

  Klippel-Trenaunay-Weber ICD-9 759.89 Congenital malformation syndromes affecting multiple systems Klippel-Trenaunay-Weber Natural History, Etiology venous malformations in association with focal overgrowth’s syndrome Autosomal Dominant short-trunked, [eorif.com]

• Myelopathy

  To our knowledge, no case has been reported of Klippel-Trenaunay-Weber syndrome with myelopathy which originated from thoracic scoliosis with a hypertrophic facet joint and vertebral body. [ncbi.nlm.nih.gov]

  The conus medullaris AVMs are always located in the conus medullaris and cauda equina and, unlike other spinal arteriovenous lesions, frequently produce radiculopathy and myelopathy at the same time. [ajnr.org]

• Urethral Bleeding

  Hematuria and urethral bleeding are also indications for urological evaluation. Bladder and urethral lesions may be confirmed with cystoscopy. [scielo.br]

  Herein the case is reported of a 24-year-old man with urethral bleeding from hemangiomas associated with KTS that were successfully managed by endoscopic sclerotherapy. [ncbi.nlm.nih.gov]

  […] associated with Klippel-Trenaunay syndrome: case report and literature review. ( 29197023 ) Yoshinaga T...Inoue T 2018 16 Medical treatment of a female patient with complicated Klippel-Trenaunay syndrome. ( 29241638 ) Huang FL...Chang TK 2018 17 Painless Urethral [malacards.org]

• Urethral Discharge

  At a 4-month follow-up, the patient only had slightly bloodstained urethral discharge, and is doing well. This is the first case reporting endoscopic sclerotherapy for a KTS-associated urethral hemangioma. [ncbi.nlm.nih.gov]

The clinical assessment consists of the patient history, a physical exam, and possibly imaging studies.

Imaging

Ultrasonography with color doppler is effective in diagnosing the condition [10]. Additionally, duplex scanning contrast venography and contrast arteriography are among the imaging modalities that assess the circulatory system while magnetic resonance angiography (MRA) identifies vascular malformations. Also, magnetic resonance imaging (MRI) evaluates the soft tissue hypertrophy.

Preoperative planning can be conducted with multidetector computed tomography (MDCT) and 3-dimensional MRI venography, which provide details about soft tissue, bone, and both superficial and deep venous circulation [11]. More recently, experts have advocated for the use of MDCT arteriography to assist with planning [12].

Skeletal radiographs, scanograms, and CT scans are used to determine the limb-length discrepancy. Tracking the progress of bone growth offers information that helps with optimizing the timing of surgical intervention.

CT imaging of the abdomen and pelvis [13], ultrasonography, and colonoscopy [14] are performed to evaluate GI and GU bleeding.

Prenatal tests

Routine and widespread use of prenatal ultrasonography can detect limb hypertrophy and asymmetry, venous malformation, subcutaneous cystic masses, and other abnormalities in the developing fetus [15]. These findings warrant further testing with chromosomal analysis.

We will review the clinical features, etiology, assessment, and treatment of patients with Klippel-Trenaunay-Weber syndrome. [ncbi.nlm.nih.gov]

Surgical treatment may be warranted in selected cases. [scielo.br]

Treatment for Klippel-Trenaunay and Parkes-Weber Syndrome Treatment for this condition is complex and should be approached on an individual, case-by-case manner. [nicklauschildrens.org]

We evaluate the risk of pulmonary embolism in patients with KTWS, being aware of the risk of deep venous thrombosis in progress of the disease and the importance of early diagnosis in prognosis. [ncbi.nlm.nih.gov]

While KTWS is often progressive with possibility of life-threatening complications, overall prognosis is good. [neurology.org]

The appearance of the limb is usually pinker and warmer due to the fistulas (AV malformations) These fistulas are abnormal connections between the arteries and veins and are lesions that can affect the prognosis of the patient and can lead to cardiac [web.archive.org]

Support Groups The following organizations provide further information on KTS: The Klippel-Trenaunay Syndrome Support Group -- k-t.org Vascular Birthmarks Foundation -- www.birthmark.org Outlook (Prognosis) Most people with KTS do well, although the condition [mountsinai.org]

Prognosis If recognized early and treaded correctly during childhood, results may be good or excellent. In adults, orthopedic interventions are able to correct the LLD. [orpha.net]

We will review the clinical features, etiology, assessment, and treatment of patients with Klippel-Trenaunay-Weber syndrome. [ncbi.nlm.nih.gov]

AND PATHOPHYSIOLOGY Unclear and controversial etiology. [accesssurgery.mhmedical.com]

Klippel-Trenaunay-Weber ICD-9 759.89 Congenital malformation syndromes affecting multiple systems Klippel-Trenaunay-Weber Natural History, Etiology venous malformations in association with focal overgrowth’s syndrome Autosomal Dominant short-trunked, [eorif.com]

Etiology is currently unknown. Median age at diagnosis is 11.9 years, without gender predilection. While KTWS is often progressive with possibility of life-threatening complications, overall prognosis is good. [neurology.org]

Here we present an epidemiological analysis of a consecutive series of cases with KTWS identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC). [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence is unknown but around 1,000 cases have been reported in the literature so far. [orpha.net]

S. : Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study. Hum. Genet. 84: 155-158, 1990. PubMed ID : 2298450 19. [lymphedemapeople.com]

Existing studies have used different definitions of KTS when describing the epidemiology and prognosis. [clinicaladvisor.com]

[…] pattern, but may have multifactorial inheritance pattern Occurs in all ethnic groups equally1 Affects males and females equally Lack of large studies, but incidence postulated at 1 in 100,000 live births2 Most commonly diagnosed in childhood ETIOLOGY AND PATHOPHYSIOLOGY [accesssurgery.mhmedical.com]

References Aminoff MJ, Barnard RO, Logue V (1974) The pathophysiology of spinal vascular malformations. [link.springer.com]

PATHOPHYSIOLOGY Exact cause of development of KTWS syndrome is unknown but different scientists reveal different theories for the cause of this syndrome. Most probably KTWS syndrome is an inherited syndrome. [drthindhomeopathy.com]

Pathophysiology The exact cause of Klippel-Trenaunay-Weber syndrome (KTWS) remains to be elucidated, although several theories exist. [emedicine.com]

There were no case reports describing the prevention of SVT in KTWS. [bloodjournal.org]

Although there is no cure for KTS, the goal is to manage symptoms and prevent complications. Symptoms People who have Klippel-Trenaunay syndrome may have the following features, which can range from mild to more extensive: Port-wine stain. [mayoclinic.org]

In mild forms of the disease, elastic stockings are advised to prevent oedema [2]. [casereports.in]

They prevent lymphedema and recurrent bleeding from capillary or venous malformations of the limb. They also protect the limb from trauma. Learn more about compression garments (PDF). [seattlechildrens.org]

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