scholarly journals Klippel Trenaunay Syndrome: A Brief Overview

2021 ◽  
Vol 5 (5) ◽  
pp. 454-461
Author(s):  
Pande Ayu Naya Kasih Permatananda ◽  
I Gusti Agung Made Adnyana Putra
Keyword(s):  
Soft Tissue ◽  
Somatic Mutations ◽  
Clinical Presentation ◽  
Invasive Procedure ◽  
Severe Bleeding ◽  
Port Wine ◽  
Non Invasive ◽  
Weber Syndrome ◽  
Vasculogenesis And Angiogenesis ◽  
Klippel Trenaunay Syndrome

Klippel-Trenaunay syndrome is a rare congenital vascular disease. The pathogenesis of this syndrome is unclear, but it is thought that most cases are the result of somatic mutations that affect genes that play a role in vasculogenesis and angiogenesis. Some patients come with a triad of capillary malformation (hemangioma or port-wine stain), venous varicosities and bony or soft tissue hypertrophy. Clinical presentation of this syndrome can lead to significant morbidities and mortalities due to severe bleeding and emboli. Although the number of cases is low, a doctor must be able to distinguish Klippel-Trenaunay Syndrome from other rare vascular disorders. Parkes Weber syndrome is usually similar to Klippel-Trenaunay syndrome, except in the arterial malformations associated with capillary malformations and soft tissue to skeletal or bone hypertrophy. The diagnosis of Klippel-Trenaunay Syndrome is carried out clinically and is quite difficult to do even with experienced doctors because there is no precise pathognomonic test.  There are several options in relation to the management of Klippel-Trenaunay Syndrome and non-invasive procedure is considered to be the most important of therapy modalities. Early diagnoses, progression monitoring, and proper intervention should be carried out for better prognosis and preventing complication.

scholarly journals Klippel Trenaunay Syndrome: A Brief Overview

2021 ◽  
Vol 5 (2) ◽  
pp. 387-394
Author(s):  
Pande Ayu Naya Kasih Permatananda ◽  
I Gusti Agung Made Adnyana Putra
Keyword(s):  
Soft Tissue ◽  
Vascular Disease ◽  
Clinical Presentation ◽  
Invasive Procedure ◽  
Port Wine Stain ◽  
Port Wine ◽  
Vascular Disorders ◽  
Non Invasive ◽  
Vasculogenesis And Angiogenesis ◽  
Klippel Trenaunay Syndrome

A B S T R A C TKlippel-Trenaunay syndrome is a rare congenital vascular disease. The pathogenesisof this syndrome is unclear, but it is thought that most cases are the result of somaticmutations that affect genes that play a role in vasculogenesis and angiogenesis. Somepatients come with a triad of capillary malformation (hemangioma or port-wine stain),venous varicosities and bony or soft tissue hypertrophy. Clinical presentation of thissyndrome can lead to significant morbidities and mortalities due to severe bleedingand emboli. Although the number of cases is low, a doctor must be able to distinguishKlippel-Trenaunay Syndrome from other rare vascular disorders. Parkes Webersyndrome is usually similar to Klippel-Trenaunay syndrome, except in the arterialmalformations associated with capillary malformations and soft tissue to skeletal orbone hypertrophy. The diagnosis of Klippel-Trenaunay Syndrome is carried outclinically and is quite difficult to do even with experienced doctors because there is noprecise pathognomonic test. There are several options in relation to the managementof Klippel-Trenaunay Syndrome and non-invasive procedure is considered to be themost important of therapy modalities. Early diagnoses, progression monitoring, andproper intervention should be carried out for better prognosis and preventingcomplication.

scholarly journals Internal and External Radiofrequency Assisted Lipo-Coagulation (RFAL) in the Control of Soft Tissue Contraction during Liposuction: Part 2 “Outside In” RFAL Thermal Tissue Tightening

2021 ◽  
Author(s):  
Robert Stephen Mulholland
Keyword(s):  
Soft Tissue ◽  
Invasive Procedure ◽  
Thermal Stimulation ◽  
Thermal Coagulation ◽  
Soft Tissue Envelope ◽  
Non Invasive ◽  
Tissue Contraction ◽  
Contraction Effect ◽  
Positively Charged ◽  
Coated Electrodes

The new Morpheus8 is a novel external RFAL device that uses the proven soft tissue contraction of BodyTite in an external, non-invasive procedure. This external RF applicator, which is also powered by BodyTite, inserts up to 40 positively charged, coated electrodes 8 mm into the subcutaneous, soft tissue envelope. A monopolar ablative lesion is generated from the tip of the electrode, stimulating contraction of the FSN and adipose coagulation. The RF then flows up to the distant negative, return electrodes on the surface of the skin, providing a non-ablative thermal stimulation to the papillary dermis. The “burst” feature of the Morpheus8, delivers simultaneous multiple levels of internal coagulation in a single one second pulse, amplifying the adipose ablation and contraction effect. Studies, show, that the combination of BodyTite internal thermal coagulation and external Morpheus8 at the time of liposuction can result in 60–70% area skin contraction, greatly improving the soft tissue contours and Body shaping outcomes following lipo-contouring procedures.

scholarly journals Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

2015 ◽  
Vol 9 ◽  
pp. CCRPM.S21645 ◽  
Author(s):  
Deepak Sharma ◽  
Sachin Lamba ◽  
Aakash Pandita ◽  
Sweta Shastri
Keyword(s):  
Soft Tissue ◽  
Vascular Malformation ◽  
Chronic Venous Insufficiency ◽  
Venous Insufficiency ◽  
Varicose Veins ◽  
Lower Limbs ◽  
Port Wine ◽  
Bone Deformity ◽  
Klippel Trenaunay Syndrome

Klippel–Trénaunay syndrome (KTS or KT) is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands), venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop) overgrowing of limb and correction of bone deformity.

scholarly journals Prenatal diagnosis of Klippel–Trenaunay syndrome: Series of four cases and review of the literature

Ultrasound ◽  
2019 ◽  
Vol 28 (2) ◽  
pp. 91-102
Author(s):  
Olga Ivanitskaya ◽  
Elena Andreeva ◽  
Natalia Odegova
Keyword(s):  
Quality Of Life ◽  
Prenatal Diagnosis ◽  
Soft Tissue ◽  
Varicose Veins ◽  
Port Wine ◽  
Review Of The Literature ◽  
Unique Case ◽  
Port Wine Stains ◽  
Klippel Trenaunay Syndrome

Klippel–Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel–Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel–Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented.

Sturge-Weber Syndrome: A Case Study

2006 ◽  
Vol 25 (2) ◽  
pp. 89-98 ◽  
Author(s):  
Linda Welty
Keyword(s):  
Mental Retardation ◽  
Clinical Presentation ◽  
Occipital Region ◽  
Port Wine ◽  
Case Presentation ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Congenital Syndrome

Sturge-Weber syndrome (SWS) is a rare, sporadic, progressive, congenital syndrome. In its complete trisymptomatic form, SWS is physically characterized by port-wine stains over the trigeminal area, leptomeningeal angiomas usually over the parieto-occipital region, and eye abnormalities. Clinical manifestation for infants with SWS depends on the affected organs, but can include seizures, mental retardation, and glaucoma. This article begins with a case presentation of an infant with SWS and then presents the etiology, embryology, pathophysiology, clinical presentation, management, and prognosis of SWS.

scholarly journals Combined lymphangioma and hemangioma of the spleen in a patient with Klippel–Trénaunay syndrome

2012 ◽  
Vol 140 (11-12) ◽  
pp. 777-781 ◽  
Author(s):  
Marko Spasic ◽  
Dragce Radovanovic ◽  
Dragan Canovic ◽  
Goran Azanjac ◽  
Predrag Djurdjevic ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Soft Tissue ◽  
Female Patient ◽  
Port Wine Stain ◽  
Port Wine ◽  
Rare Congenital Anomaly ◽  
Vascular Origin ◽  
Accompanying Symptoms ◽  
Clinical Triad ◽  
Klippel Trenaunay Syndrome

Introduction. Klippel?Tr?naunay syndrome (KTS) is a very rare congenital anomaly of blood vessels, characterized by the following clinical triad: varicose superficial veins, port-wine stain and usually bony and soft tissue hypertophy of extremities, most often located in the lower extremities. It is often accompanied by visceral manifestations, and rarely combined with splenomegaly. Case Outline. A 30-year-old female patient came to the Surgery Clinic because of occasional left hypochondrial pain. After she was diagnosed with KTS combined with splenomegaly, splenectomy was performed. Macroscopic and microscopic spleen examination indicated the presence of tumor of vascular origin, presenting a combination of lymphangioma and hemangioma. Conclusion. Diagnosed KTS demands a thorough clinical examination of the patient because of the potential presence of visceral manifestations. When splenomegaly is present, even though being often benign, splenectomy is usually performed to alleviate accompanying symptoms which occur as a result of organ enlargement and compression, to prevent rupture and consequential bleeding when the vascular spleen tumor is large, and finally to avoid a possibility of malignant transformation.

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

2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Vittorio Scavella ◽  
Lorenzo Felli ◽  
Filippo Cruciani ◽  
Maria Teresa Contestabile ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Venous Pressure ◽  
Pik3ca Mutation ◽  
Hereditary Diseases ◽  
Independent Group ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

scholarly journals Klippel-Trenaunay Syndrome with Extensive Lymphangiomas

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Sirin Mneimneh ◽  
Ali Tabaja ◽  
Mariam Rajab
Keyword(s):  
Soft Tissue ◽  
Vascular Malformations ◽  
Rare Disorder ◽  
Port Wine ◽  
Port Wine Stains ◽  
Klippel Trenaunay Syndrome

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trenaunay syndrome with limb hypertrophy, port-wine stains, lymphangiomas, and venous varicosities in the limbs.

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 ◽  
2020 ◽  
pp. 170853812093642
Author(s):  
Maria Palmieri ◽  
Anna Maria Pinto ◽  
Laura di Blasio ◽  
Aurora Currò ◽  
Valentina Monica ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Liquid Biopsy ◽  
Somatic Mutations ◽  
Causative Role ◽  
Next Generation ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Klippel Trenaunay Syndrome ◽  
Generation Sequencing

Objectives Somatic mosaicism of PIK3CA gene is currently recognized as the molecular driver of Klippel–Trenaunay syndrome. However, given the limitation of the current technologies, PIK3CA 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. This approach, overcoming the space-time profile constraint of tissue biopsies, opens a new scenario also for others diseases caused by somatic mutations. Methods In the present study, we performed a comprehensive analysis of seven patients (four females and three males) with Klippel–Trenaunay syndrome. Blood samples from both peripheral and efferent vein from malformation were collected and cell-free DNA was extracted from plasma. Tissue biopsies from vascular lesions were also collected when available. Cell-free DNA libraries were performed using Oncomine™ Pan-Cancer Cell-Free Assay. Ion Proton for sequencing and Ion Reporter Software for analysis were used (Life Technologies, Carlsbad, CA, USA). Results Cell-free circulating DNA analysis revealed pathogenic mutations in PIK3CA gene in all patients. The mutational load was higher in plasma obtained from the efferent vein at lesional site (0.81%) than in the peripheral vein (0.64%) leading to conclude for a causative role of the identified variants. Tissue analysis, available for one amputated patient, confirmed the presence of the mutation at the malformation site at a high molecular frequency (14–25%), confirming its causative role. Conclusions Our data prove for the first time that the cell-free DNA-next generation sequencing–liquid biopsy, which is currently used exclusively in an oncologic setting, is indeed the most effective tool for Klippel–Trenaunay syndrome diagnosis and tailored personalized treatment.

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