Klippel-Trenaunay

Symptomen

Kinderen die aan dit syndroom lijden hebben dus twee of meer afwijkingen aan één of meerdere ledematen (armen/benen); spataderen, wijnvlekken en een afwijkende groei van weke delen en botten. De wijnvlek is vaak vanaf de geboorte zichtbaar. De spataderen en de afwijkende groei ontstaan pas later, maar vaak wel al op jonge leeftijd. De wijnvlek zit meestal op een arm of been, maar soms is de wijnvlek aanwezig op de heup, buik, billen of de schouders, borst en rug. Door de overmatige groei zit er soms verschil tussen de lengte en/of dikte van de twee benen of armen. Ook komt het voor dat kinderen meer dan tien vingers/tenen hebben (polydactylie) of dat vingers/tenen met elkaar vergroeid zijn (syndactylie). De ernst van de symptomen verschilt per patiënt.

Behandeling

Het syndroom van Klippel-Trenaunay is niet te genezen. Wel kunnen de symptomen verminderd worden door specifieke behandeling. Met lasertherapie kunnen de verschijnselen van een wijnvlek verminderen. Behandeling van spataders bij mensen het met syndroom van Klippel-Trenaunay is moeilijker dan bij mensen met gewone spataders. Daarom wordt het liefst voor een steunkous gekozen. Beenlengteverschil kan houdingsproblemen en rugklachten geven en wordt behandeld met hakverhoging of een operatie.
Dit syndroom valt onder de complex gemengde malformaties omdat er sprake is van een capillair-veneuze malformatie waarbij soms ook lymfvaten een rol spelen. (zie ISSVA-classificatie).

Artikelen & video

Artikelen

Klippel-Trenaunay syndrome or not? An exploration of atypical presentations

Phakomatosis pigmentovascularis type IIb with Klippel-Trenaunay syndrome: Association with GNAQ mutation in vascular endothelial cells

A rare case of Klippel-Trenaunay syndrome presenting with chronic myeloid leukemia

Application of endovascular microwave ablation in infants: A new treatment consideration for Klippel-Trenaunay syndrome

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors

Klippel-Trenaunay syndrome and pregnancy: A Case-Report

The Prospective Natural History Study of Patients with Intractable Venous Malformation and Klippel-Trenaunay Syndrome to Guide Designing a Proof-of-Concept Clinical Trial for Novel Therapeutic Intervention

Options in the treatment of superficial and deep venous disease in patients with Klippel-Trenaunay syndrome

A Patient with Klippel-Trenaunay Syndrome and Mild Ophthalmic Manifestations

Deep Vein Thrombosis in Klippel-Trénaunay Syndrome

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Management of pregnant woman with Klippel-Trenaunay syndrome: A rare and complex situation, about a case report

Klippel-Trenaunay syndrome with gastrointestinal involvement and portal hypertension-evaluation and management

A neonate with Klippel-Trénaunay syndrome

Breast Hemangioma: Unique Presentation in a Patient with Klippel- Trenaunay-syndrome

Options in the treatment of superficial and deep venous disease in patients with Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome with gastrointestinal involvement and portal hypertension-evaluation and management

Management of pregnant woman with Klippel-Trenaunay syndrome: A rare and complex situation, about a case report

Sirolimus for neonatal Klippel-Trenaunay syndrome with chylothoraxChiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

Gastrointestinal bleeding with Klippel-Trenaunay syndrome: a case report

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

Breast Hemangioma: Unique Presentation in a Patient with Klippel- Trenaunay-syndrome

Intraneural hemangioma in Klippel-Trenaunay syndrome: role of musculo-skeletal ultrasound in diagnosis-case report and review of the literature

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

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Klippel-Trenaunay syndrome with anorectum involvement and portal hypertension

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

Klippel-Trénaunay syndrome

Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants A cross-sectional survey of long-term outcomes for patients with diffuse capillary malformation with overgrowth Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study

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

Sirolimus for neonatal Klippel-Trenaunay syndrome with chylothorax

Tracheal Varicose Veins Associated with Klippel-Trenaunay Syndrome

A neonate with Klippel-Trénaunay syndrome: a case report

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

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

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

Tracheal Varicose Veins Associated with Klippel-Trenaunay Syndrome

A neonate with Klippel-Trénaunay syndrome: a case report

Intralesional Bleomycin Injection in Management of Localized Venous Problems in Children with Klippel-Trenaunay Syndrome

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

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

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

Orthostatic intolerance with Klippel-Trenaunay syndrome

Pregnancy with Klippel-Trenaunay syndrome

Intraneural hemangioma in Klippel-Trenaunay syndrome: role of musculo-skeletal ultrasound in diagnosis-case report and review of the literature

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

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

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

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

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

Tracheal Varicose Veins Associated with Klippel-Trenaunay Syndrome

A neonate with Klippel-Trénaunay syndrome: a case report

Intralesional Bleomycin Injection in Management of Localized Venous Problems in Children with Klippel-Trenaunay Syndrome

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

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

Orthostatic intolerance with Klippel-Trenaunay syndrome

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

Case Series of Concomitant Klippel-Trenaunay Syndrome and May-Thurner Syndrome

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

Potential Utilization of Lymphoscintigraphy in Patients With Klippel-Trenaunay Syndrome

Intraneural hemangioma in Klippel-Trenaunay syndrome: role of musculo-skeletal ultrasound in diagnosis-case report and review of the literature

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

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

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

Potential Utilization of Lymphoscintigraphy in Patients With Klippel-Trenaunay Syndrome

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

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

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

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

Inverse Klippel-Trenaunay

National Organization for Rare Diseases USA

Video

Klippel-Trenaunay video

Bron: https://www.huidhuis.nl/huidaandoening/syndroom-van-klippel-trenaunay