Síndrome de Klippel Trenaunay Weber. Consideraciones sobre un caso clínico / Klippel-Trenaunay-Weber syndrome. Considerations on a clinical case

RESUMEN Se presenta el caso de gestante de 26 años de edad, afecta del síndrome Klippel Trenaunay Weber congénito, con su primer embarazo el cual concluyó a las 39 semanas, mediante cesárea, obteniéndose recién nacido de 3450 gramos, buen Apgar al nacer, con evolución satisfactoria para el binomio madre-hijo. Se revisó bibliografía universal sobre esta patología, resaltándose los riesgos potenciales para la madre y su producto. Aún cuando la frecuencia de aparición de esta entidad es rara, resulta importante su conocimiento para los profesionales que laboran, tanto en la atención primaria de salud, como en la atención secundaria (AU).

ABSTRACT The case of a 26-years-old woman is presented. She presented the Klippel-Trenaunay-Weber syndrome in her first pregnancy finished at the 39th week through caesarian section; the newborn was 3450 grams, with good Apgar at birth: the mother-child binomial had a satisfactory evolution. The universal bibliography on this disease was reviewed, highlighting the potential risk for mother and child. Even when the frequency of this entity is rare, it is important its knowledge for the professionals working in the primary health care as much as in the secondary health care. (AU)

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

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." The majority of hits described singular case reports and were subsequently excluded. The remaining papers were then reviewed and included on the basis of the quality of evidence and the authors' discretion. CONCLUSIONS: KTS is characterized by a clinical triad of extremity varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is clinically supplemented with magnetic resonance imaging and computed tomography. Although this syndrome is associated with significant comorbidities, such as pain, edema, ulcerations, and pruritus, it is rarely the cause of death. The backbone of treatment is nonoperative in nature but should be supplemented with minimally invasive, endovascular, and rarely open surgical procedures for refractory cases.

Síndrome de Klippel Trenaunay / Klippel-Trenaunay Syndrome

El Síndrome de Klippel Trenaunay es una malformación vascular congénita caracterizada por una triada de manifestaciones clínicas que comprende una malformación vascular venular, linfática y venosa, junto con hipertrofia esquelética y aumento de tejidos blandos de uno o más miembros. De etiología desconocida, patogénicamente se cree que se produce una alteración en el desarrollo del mesodermo en el feto, que afecta a las líneas angioblástica, linfoblástica y osteoblástica. Se presenta el caso de un paciente femenino de 5 años de edad quien presenta una malformación vascular, diagnosticada inicialmente como hemangioma vascular y posteriormente se asoció a Síndrome de Klippel Trenaunay. El objetivo de la presentación de este caso es generar conocimiento sobre las características clínicas del síndrome de Klippel Trenaunay para un diagnóstico y tratamiento oportuno(AU)

Klippel - Trenaunay -Weber congenital vascular malformation characterized by a triad of clinical manifestations comprising a venular, venous and lymphatic vascular malformation, with hypertrophy increased skeletal and soft tissue of one or more members. Of unknown etiology, it is believed to pathogenically an alteration occurs in mesoderm development in the fetus, which affects angioblastic , and osteoblastic lymphoblastoid lines. Is presentedthe case of a 5 year old that has a vascular malformation, initially diagnosed as vascular hemangioma and later was associated with Klippel- Trenaunay -Weber.Objective: To generate knowledge about the clinical features of KlippelTrenaunay Syndrome for diagnosis and treatment(AU)

Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis).

PURPOSE: To provide an in-depth re-examination of assumed causes of tissue hypertrophy, port-wine stains, and the Sturge-Weber, Cobb, Klippel-Trénaunay, and related syndromes to support an alternative unifying pathophysiologic mechanism of venous dysplasia producing focal venous hypertension with attendant tissue responses; to provide proof of concept with new patient data; to propose a novel etiological hypothesis for the venous dysplasia in these syndromes and find supportive evidence. METHODS: Data from 20 patients with port-wine stains and corneal pachymetry readings was collected prospectively by the author in an institutional referral-based practice. The literature was searched using MEDLINE, and articles and textbooks were obtained from the bibliographies of these publications. RESULTS: Newly obtained dermatologic, corneal pachymetry, fundus ophthalmoscopic, ocular and orbital venous Doppler ultrasonography, and magnetic resonance imaging findings in patients with the Sturge-Weber syndrome or isolated port-wine stains, along with published data, reveal diffusely thickened tissues and neural atrophy in all areas associated with venous congestion. CONCLUSIONS: Contrary to traditional understanding, signs and symptoms in the Sturge-Weber and related syndromes, including both congenital and acquired port-wine stains, are shown to arise from effects of localized primary venous dysplasia or acquired venous obstruction rather than neural dysfunction, differentiating these syndromes from actual phacomatoses. Effects of focal venous hypertension are transmitted to nearby areas via compensatory collateral venous channels in the above conditions, as in the Parkes Weber syndrome. A novel underlying etiology-prenatal venous thrombo-occlusion-is proposed to be responsible for the absence of veins with persistence and enlargement of collateral circulatory pathways with data in the literature backing this offshoot hypothesis. The mechanism for isolated pathologic tissue hypertrophy in these syndromes clarifies physiologic mechanisms for exercise-induced muscle hypertrophy to occur via venous compression and increased capillary transudation.

Gestação em pacientes com síndrome de Klippel-Trenaunay: revisão da literatura / Pregnancy in Klippel-Trenaunay syndrome: review of literature

Klippel-Trenaunay syndrome is a rare congenital anomaly of unknown etiology, characterized by capillary and venous malformations, and hypertrophy of bone and soft tissue. Cases of pregnancy in women with Klippel-Trenaunay syndrome are rare and usually associated with adverse perinatal outcomes. Objective: To resume knowledge about pregnancy in the Klippel-Trenaunay syndrome as well as the syndrome so these patients be readily recognized and receive proper care to have a successful pregnancy outcome. Method: It was performed a review of the English literature, in the MEDLINE and Cochrane Library bases until October2009. Results: Only 17 case reports of pregnancy in women with Klippel-Trenaunay syndrome have been found. The evolutions of pregnant were variable and involve adverse events, with worsening of previous manifestations, bleeding, disseminated intravascular coagulation, thromboembolic events and pain. Conclusion: Pregnancy increases the risk of adverse events. Knowledge of the syndrome and multidisciplinary prenatal, intra and postpartum care areessential to successful outcome of pregnancy...

A síndrome de Klippel-Trenaunay é uma anomalia congênita de etiologiadesconhecida, caracterizada pela presença de malformações venosas e arteriais, hipertrofia de ossos e tecidos moles. São raros os relatos de gravidez em pacientes portadoras dessasíndrome, sendo associada com alto risco obstétrico. Objetivo: Resumir os conhecimentos acumulados sobre gestação em pacientes com síndrome de Klippel-Trenaunay, bem como sobre a própria síndrome, para permitir que essas pacientes sejam prontamente reconhecidas e recebam os cuidados necessários para um bom desfecho obstétrico. Método: Foi realizadapesquisa na literatura em língua inglesa, até outubro de 2009, na base de dados Medline e Cochrane Library. Resultados: Foram encontrados 17 casos relatados na literatura de gestaçõesem pacientes com síndrome de Klippel-Trenaunay. A evolução obstétrica das gestantes é variável e envolve eventos adversos, com piora das manifestações prévias, hemorragia, coagulação intravascular disseminada, eventos tromboembólicos e dor. Conclusão: A gestação agrava o risco de eventos adversos. O entendimento da síndrome e cuidado multidisciplinar pré-natal, intra e pós-parto são fundamentais para o bom desfecho da gestação...

Case study: a minimally invasive approach to the treatment of Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome (KTS) is a congenital developmental disorder characterized by port wine stain, venous abnormalities, soft tissue, and bony deformities of the affected extremity. It is usually diagnosed in early childhood and has many long-term sequelae. Patients not only have physical health problems but also must learn to cope with psychosocial factors that will affect their self-esteem and interpersonal relationships. This article describes the syndrome of KTS and the minimally invasive techniques used in the treatment of superficial varicosities in patients with reasonably mild KTS with an intact deep venous system. Treating the varicosities relatively early to avoid the long-term complications of chronic venous insufficiency may improve the quality of life, maintain limb function, and decrease the risk of long-term venous complications.

Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth.

Klippel-Trenaunay syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Appropriate evaluation and treatment of children displaying features of the disease may minimize morbidity. The clinical appearance, etiology, genetics, diagnostics, and treatment of Klippel-Trenaunay syndrome are herein explored.

Klippel-Trenaunay syndrome.

The association of three physical findings including capillary malformation, varicosities, and hypertrophy of bony and soft tissues corresponds to Klippel-Trenaunay syndrome. This triad of findings, described by the two French physicians Klippel and Trenaunay in 1900, differs from Parkes-Weber syndrome, in that Klippel-Trenaunay syndrome does not incorporate significant hemodynamic arteriovenous fistulas. Generally, management of this disease process should be individualized. Surgery should be considered in cases where skin ulcerations lead to persisting and recurrent bleeding, or where digital deformities lead to functional disabilities or where significant limb overgrowth leads to both functional and psychological impairment. Persistent hematochezia, hematuria, and vaginal and esophageal bleeding are considered indications for surgical intervention. Recurrent attacks of thrombophlebitis and cellulitis are treated medically with antiinflammatory agents and antibiotics. Otherwise, management of this syndrome is generally conservative, consisting of psychological encouragement, reassurance, and the continued use of graduated compressive stockings for varicosities and intermittent pneumatic compression pumps for lymphatic edema.

Síndrome de Klippel-Trenaunay-Weber: presentación de un caso / Klippel-Trenaunay-Weber syndrome: a case report

Se presentan las características oftalmológicas y clínicas de una paciente que se concluyó como portadora de síndrome Klippel-Trenaunay. Este se incluye dentro de los síndromes neurocutáneos con afección vascular. Es de presentación poco frecuente (1/27 500 recién nacidos) y no bien conocido. Posee 3 características fundamentales que lo distinguen: angioma o nevus flammeus, hipertrofia asimétrica de tejidos blandos y várices. En nuestra paciente se observan 2 de estas alteraciones asociadas a otras anomalías ocasionales como son glaucoma y melanosis escleral bilateral

Klippel-Trénaunay syndrome. An unusual presentation of unilateral leg edema.

Klippel-Trénaunay syndrome is a rare congenital condition that classically presents as a triad of varicosities, bone or soft-tissue hypertrophy, and cutaneous hemangiomas. The authors describe a case of this disease in an otherwise healthy patient with unilateral leg edema and intermittent bleeding from prominent ankle varicosities. The diagnosis was made on the basis of clinical presentation, diagnostic studies, and a comprehensive literature review. An overview of the pathology, treatment, and prognosis of this disease is provided.

Klippel-Trenaunay syndrome.

The Klippel-Trenaunay syndrome, typically characterised by the triad of cutaneous haemangioma, venous varicosities, and limb hypertrophy, may also have a formes frustes presentation, with absence of the cutaneous naevus. A case is reported in a 75-year-old woman with a presumptive diagnosis of renovascular hypertension.

The etiology of the Klippel-Trenaunay syndrome.

The etiology of the Klippel-Trenaunay syndrome (KTS) remains obscure. Although venous hypertension secondary to deep venous obstruction has been suggested as a cause, recent studies have demonstrated that most patients have unimpeded venous drainage. Calf blood flows have been measured in 33 patients with KTS using venous occlusion plethysmography. Although all flow rates were within normal limits, flow in affected limbs was invariably greater than in normal limbs (p less than 0.001), and this is related to the presence of the nevus. Biopsies of subcutaneous veins demonstrate the histological features of a response to chronically raised flow. The authors suggest that KTS is caused by mesodermal abnormality during fetal development, leading to the maintenance of microscopic arteriovenous communications in the limb bud, as a result of which the triad of nevus, hypertrophy, and superficial varices is produced. Deep venous abnormalities occur pari passu with the triad and are not responsible for its development.

Klippel-Trenaunay syndrome: a review.

The Klippel-Trenaunay syndrome is a triad of congenital anomalies characterized by a vascular nevus, varicose veins and bony and soft-tissue hypertrophy. Although the syndrome is uncommon, initially the condition appears as a skin blemish or varicose veins. To avoid errors in management, it is important to recognize the syndrome. In this paper the authors outline the presentation, investigation and management of Klippel-Trenaunay syndrome and describe four cases of their own. One form of Klippel-Trenaunay syndrome, in which all the anomalies of the triad are important, in which direct signs of a large arteriovenous shunt are present and for which the surgical approach is difficult, is Parkes-Weber syndrome. Lack of reports in the world literature on long-term follow-up leaves many unanswered questions regarding prognosis and management.

[Klippel-Trenaunay syndrome of the upper extremity. Apropos of 2 cases]. / Le syndrome de Klippel-Trenaunay du membre supérieur. A propos de 2 cas.

The authors report a case of Klippel-Trenaunay syndrome in the upper limb of a 27 years old migrant manual worker. This very typical case due to agenesis of the humeral vein is used as a basis for a discussion of the theories of Servelle on the pathogenesis of this syndrome.