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Klippel trenaunay

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https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#1
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28624001/diagnosis-and-management-of-the-venous-malformations-of-klippel-tr%C3%A3-naunay-syndrome
#2
REVIEW
S Keisin Wang, Natalie A Drucker, Alok K Gupta, Francis E Marshalleck, Michael C Dalsing
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...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28623992/near-infrared-fluorescence-lymphatic-imaging-of-klippel-tr%C3%A3-naunay-syndrome
#3
John C Rasmussen, Rodrick C Zvavanjanja, Melissa B Aldrich, Matthew R Greives, Eva M Sevick-Muraca
The relationship between lymphatic and venous malformations in Klippel-Trénaunay syndrome is difficult to assess. Herein the authors describe near-infrared fluorescence lymphatic imaging to assess the lymphatics of a subject with a large port-wine stain and right leg edema. Although lymphatic vessels in the medial, affected knee appeared dilated and perhaps tortuous, no definitive abnormal lymphatic pooling or propulsion was observed. The lymphatics in the affected limb were well defined but less numerous than in the contralateral limb, and active, contractile function was observed in all vessels...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28604466/unique-considerations-in-spinal-cord-stimulator-placement-in-pediatrics-a-case-report
#4
Eugene Kim, Giovanni Cucchiaro
Spinal cord stimulation can be a valuable treatment option in the management of neuropathic pain in select pediatric patients. We present a unique case of a 16-year-old girl with Klippel-Trenaunay-Weber syndrome and scoliosis who required the placement of a spinal cord stimulator (SCS) for severe sciatic nerve neuropathic pain after a right above-knee amputation. Several attempts at lead placement were required before successful pain coverage was achieved because of late recognition of significant vertebral body rotation...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28577738/-pik3ca-related-overgrowth-syndrome-pros
#5
Quitterie Venot, Guillaume Canaud
This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28523345/endovenous-laser-ablation-therapy-in-children-applications-and-outcomes
#6
Premal A Patel, Alex M Barnacle, Sam Stuart, Joao G Amaral, Philip R John
BACKGROUND: Endovenous laser ablation is well recognized as the first-line treatment for superficial venous reflux with varicose veins in adults. It is not widely reported and is not an established practice in pediatric patients. OBJECTIVE: To illustrate a variety of pediatric venous conditions in which endovenous laser ablation can be utilized and to demonstrate its feasibility and safety in children. MATERIALS AND METHODS: We conducted a retrospective review of endovenous laser ablation procedures performed between January 2007 and July 2014 at two large pediatric institutions...
May 18, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28458832/a-rare-presentation-of-klippel-trenaunay-syndrome-with-bilateral-lower-limbs
#7
Akira Baba, Shinji Yamazoe, Yumi Okuyama, Kanichiro Shimizu, Yuko Kobashi, Yosuke Nozawa, Yohei Munetomo, Takuji Mogami
Klippel-Trenaunay syndrome (KTS) is a vascular lymphatic malformation underlying with bony and soft tissue hypertrophy. It is a rare condition presenting in 1 out of 10 000 people. The growth disturbance due to KTS is more commonly unilateral (85%) than bilateral (12.5%), and most rarely crossed-bilateral (2.5%). A man in his 40s presented to our hospital with a complaint of lower limb discomfort. Radiograph, ultrasonography, computed tomography venography, magnetic resonance (and venography) showed various radiological findings characteristic for KTS...
February 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28432715/complications-of-pregnancy-and-labor-in-women-with-klippel-trenaunay-syndrome-a-nationwide-cross-sectional-study
#8
S E R Horbach, M M Lokhorst, C E U Oduber, S Middeldorp, J A M van der Post, C M A M van der Horst
OBJECTIVE: To evaluate complications of pregnancy, including thromboembolism, in women with extensive vascular malformations associated with Klippel-Trenaunay Syndrome (KTS). DESIGN: Nationwide cross-sectional study. SETTING: Two tertiary expert centers and the Dutch Klippel-Trenaunay patient organization. SAMPLE: Adult women with KTS. METHODS: Patients with KTS were invited to participate in a comprehensive online survey about their obstetric history...
April 22, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28424013/anterior-spinal-artery-aneurysm-in-aortic-stenosis-of-different-etiology-report-of-three-cases
#9
Vivek Singh, Suprava Naik, Sanjeev K Bhoi, R V Phadke
Isolated aneurysms of spinal arteries are rare. Spinal artery aneurysms are commonly found in association with spinal cord arteriovenous malformation and coarctation of aorta and rarely with aortic arch interruption and Klippel-Trenaunay syndrome. Spinal angiograms are the gold standard for diagnosing these spinal artery aneurysms but with the advances in computed tomography technology these aneurysms can also be very well demonstrated in computed tomography angiograms. We describe three cases of anterior spinal artery aneurysm, those are flow related aneurysms, associated with coarctation of aorta and with Takayasu arteritis...
April 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#10
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam, Godfrey Chi-Fung Chan, Brian Hon-Yin Chung
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28266961/thoracic-manifestations-of-klippel-trenaunay-syndrome
#11
Mark M Hammer, Wallace T Miller
Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by venous malformations and a predisposition to pulmonary embolism. We reviewed the imaging findings of 7 adult patients with KTS who underwent thoracic CT. While the superficial manifestations of KTS predominantly affect the extremities, patients frequently develop abnormalities of the pulmonary arterial system, particularly chronic thromboembolic pulmonary hypertension. Additionally, some patients are seen to develop pulmonary arteriolar aneurysms; the physiologic significance of this finding is unknown at this time...
May 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28168078/a-rare-case-of-diffuse-hemangiomatosis-of-the-spleen-with-splenic-rupture-following-aortic-valve-replacement
#12
F Capilli, M Weinbeck, M Czerny, M Siepe, T Krauss
In this paper we present a rare case of splenic rupture that occurred after an open aortic valve replacement in a male patient with hemangiomatosis of the spleen and the liver. The patient was treated with an emergency splenectomy. He showed no other sings of associated systemic disorder, such as Klippel-trénaunay syndrome or Proteus syndrome.
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/27941746/klippel-trenaunay-syndrome-a-case-report
#13
M N Islam, M A Hossain, M S Rahman, T Tazmin, M A Ali, F Sultana, S A Haque
Klippel Trenaunay syndrome refers to a rare congenital anomaly which is characterized by capillary malformation, venous malformation and sometimes lymphatic malformation associated with overgrowth of a limb, with soft tissue hypertrophy and/or bony hypertrophy. The anomaly, if present, is present at birth and usually involves the lower limbs as well as portion of trunk, face, uppper limb or head. Our reporting case is a preterm male neonate having port wine stain, varicose veins and excessive growth of soft tissue of left lower limb clinically consistent with Klippel Trenaunay Syndrome...
October 2016: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/27921060/klippel-trenaunay-syndrome-of-the-rectosigmoid-colon-presenting-as-severe-anemia
#14
Eula Plana Tetangco, Hafiz Muhammad Sharjeel Arshad, Rogelio Silva
A 23-year-old female with Klippel-Trenaunay syndrome presented with abdominal pain and severe anemia. Colonoscopy revealed diffuse venous congestion extending circumferentially from the midsigmoid to the rectum, with multiple large varicosities. This case emphasizes that Klippel-Trenaunay syndrome may have visceral manifestations beyond the classic presentation, which can be a significant source of morbidity and mortality.
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27901321/copy-number-variants-in-a-population-based-investigation-of-klippel-trenaunay-syndrome
#15
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Extracted DNA was genotyped using Illumina microarrays and CNVs were called using PennCNV software. CNVs selected for follow-up had ≥10 single nucleotide polymorphisms (SNPs) and minimal overlap with in-house controls or controls from the Database of Genomic Variants...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27885298/klippel-trenaunay-syndrome-a-case-report
#16
R K Sah, S Sharma, S Ghimire, B B Bagale, M Kayastha, R H Chapagain
Klippel-Trenaunaysyndrome(KTS) is a rare congenital condition usually presenting with port wine stains, excessive growth of bones and soft tissue and varicose veins which most commonly occurs in the legs, but it also may affect the arms, face, head, or internal organs. We report a case of term male neonate with clinical findings of Port-wine stain, multiple cystic swellings with ultrasonographic findings suggestive of vascular malformations and limb abnormalities in the form ofsoft tissue hypertrophy of right upper limb, polydactyly of right hand and syndactyly of left hand consistent withKlippel-Trenaunay syndrome...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27852089/klippel-trenaunay-syndrome-endoscopic-findings
#17
Sandra Barbeiro, Rita Brásio, Catarina Atalaia-Martins, Pedro Marcos, Cláudia Gonçalves, Paulo Alves, Nuno Rama
No abstract text is available yet for this article.
January 2016: Endoscopy
https://www.readbyqxmd.com/read/27826976/patients-with-klippel-trenaunay-syndrome
#18
M Zavacka, J Pobehova, K Gibarti, M Frankovicova
Klippel-Trenaunay syndrome is the most frequent systemic venous angiodysplasia. It is characterized by cutaneous capillary malformations - naevus flammeus, excessive growth of soft and bone tissue, venous and lymphatic malformations. Investigative methods include: clinical examinations, venography as the evidence of dysplastic changes of superficial and / or deep venous system, the Moyne obstruction and venous insufficiency perforator. Treatment is conservative, related to that of chronic venous disease. The surgery is aimed at removing the varices and insufficient perforators (Fig...
2016: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/27822901/growing-skull-hemangioma-first-and-unique-description-in-a-patient-with-klippel-tr%C3%A3-naunay-weber-syndrome
#19
Lars E van der Loo, Jan Beckervordersandforth, Albert J Colon, Olaf E M G Schijns
We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome.
February 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27777480/abdominal-vascular-syndromes-characteristic-imaging-findings
#20
Leandro Cardarelli-Leite, Fernanda Garozzo Velloni, Priscila Silveira Salvadori, Marcelo Delboni Lemos, Giuseppe D'Ippolito
Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome...
July 2016: Radiologia Brasileira
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