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Klippel trenaunay

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https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#1
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
#2
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...
March 6, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27646641/ep10-10-prenatal-diagnosis-of-klippel-trenaunay-syndrome
#12
E Mousty, A Loiodice, F Grosjean, O Prodhomme, J Develay-Morice, J M Faure, V Letouzey, F Fuchs
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27638996/patterns-of-pediatric-venous-disease
#13
Elizabeth A Andraska, Danielle C Horne, Danielle N Campbell, Jonathan L Eliason, Thomas W Wakefield, Dawn M Coleman
BACKGROUND: The spectrum of chronic venous disease (CVD) is well documented in adults; clinical guidelines standardize diagnosis and treatment. There is a paucity of data published commenting on pediatric CVD exclusive of Klippel-Trénaunay syndrome (KTS) and post-thrombotic syndrome. METHODS: This study aimed to define patterns of pediatric venous disease. All venous reflux studies performed on patients <18 years of age between January 2012 and June 2014 were reviewed...
October 2016: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/27607178/diffuse-elevated-abdominal-activity-on-99mtc-labeled-red-blood-cell-imaging-in-a-pediatric-patient-with-klippel-trenaunay-syndrome
#14
Summer L Kaplan, Hongming Zhuang
Klippel Trenaunay syndrome commonly manifests as lower limb hypertrophy where vascular malformation occurs. However, up to 20% of patients with Klippel Trenaunay syndrome can have gastrointestinal involvement. An 18-year-old man with known Klippel Trenaunay syndrome in the left lower extremity underwent Tc-labeled red blood cell imaging to determine the site of gastrointestinal bleeding. The images did not reveal the site of active bleeding. However, diffuse non-moving activity in the left abdomen and pelvis was noted, which corresponded to hypertrophied colon and related blood vessels, consistent with intestinal involvement of Klippel Trenaunay syndrome...
November 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27561730/initial-experience-with-propranolol-treatment-of-lymphatic-anomalies-a-case-series
#15
June K Wu, Ellen D Hooper, Sherelle L Laifer-Narin, Lynn L Simpson, Jessica Kandel, Carrie J Shawber
Lymphatic malformations (LMs) are congenital lymphatic lesions that impose significant and costly morbidities on affected patients. Treatment options are limited due to incomplete understanding of LM pathobiology. Expression of an activated β2-adrenergic receptor has been described in LM tissue, suggesting that this pathway may contribute to the clinical manifestations of LM. We hypothesized that propranolol, a β-adrenergic receptor antagonist, might improve symptoms of patients with LMs and lymphatic anomalies...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27529050/lymphedema-in-klippel-trenaunay-syndrome-is-it-possible-to-normalize
#16
Jose Maria Pereira de Godoy, Angela Río, Paloma Domingo Garcia, Maria de Fatima Guerreiro Godoy
The aim of this study is to report the results of intensive therapy of lymphedema associated with Klippel-Trenaunay syndrome. A 24-year-old female patient reported that her family had observed edema in her right leg and port wine stains from birth. For ten years, they consulted with different specialists in the region but the prognosis did not change and no specific treatment was found. In 2014, at the age of 24, with massive lymphedema, a leg ulcer, and recurrent infections, she started treatment at the Clínica Godoy in São José do Rio Preto...
2016: Case Reports in Vascular Medicine
https://www.readbyqxmd.com/read/27522498/haploinsufficiency-of-klippel-trenaunay-syndrome-gene-aggf1-inhibits-developmental-and-pathological-angiogenesis-by-inactivating-pi3k-and-akt-and-disrupts-vascular-integrity-by-activating-ve-cadherin
#17
Teng Zhang, Yufeng Yao, Jingjing Wang, Yong Li, Ping He, Vinay Pasupuleti, Zhengkun Hu, Xinzhen Jia, Qixue Song, Xiao-Li Tian, Changqing Hu, Qiuyun Chen, Qing Kenneth Wang
Aggf1 is the first gene identified for Klippel-Trenaunay syndrome (KTS), and encodes an angiogenic factor. However, the in vivo roles of Aggf1 are incompletely defined. Here we demonstrate that Aggf1 is essential for both physiological angiogenesis and pathological tumour angiogenesis in vivo Two lines of Aggf1 knockout (KO) mice showed a particularly severe phenotype as no homozygous embryos were observed and heterozygous mice also showed embryonic lethality (haploinsufficient lethality) observed only for Vegfa and Dll4 Aggf1(+/-) KO caused defective angiogenesis in yolk sacs and embryos...
August 13, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27511883/parkes-weber-syndrome-diagnostic-and-management-paradigms-a-systematic-review
#18
Igor Banzic, Milos Brankovic, Živan Maksimović, Lazar Davidović, Miroslav Marković, Zoran Rančić
OBJECTIVES: Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. METHODS: We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases)...
August 9, 2016: Phlebology
https://www.readbyqxmd.com/read/27502552/oral-sildenafil-as-a-treatment-option-for-lymphatic-malformations-in-pik3ca-related-tissue-overgrowth-syndromes
#19
Sophie E R Horbach, Folkert Jolink, Chantal M A M van der Horst
Patients with extensive lymphatic malformations associated with tissue overgrowth syndromes (such as Klippel-Trenaunay syndrome and CLOVES) often pose a therapeutic challenge for physicians. In recent years, it has been suggested that oral sildenafil therapy might be used to treat congenital lymphatic malformations. However, this possible new therapy has not yet been used in patients with lymphatic malformations associated with tissue overgrowth syndromes. A 30-year-old man with extensive capillary-lymphatic malformations of the right leg and thorax, and a tissue overgrowth syndrome caused by a somatic mutation in the PIK3CA gene, was treated with oral sildenafil due to symptoms of pain, dyspnea, and functional impairment...
November 2016: Dermatologic Therapy
https://www.readbyqxmd.com/read/27492391/klippel-tr%C3%A3-naunay-syndrome-need-for-careful-clinical-classification
#20
Kevin R Volz, Christopher D Kanner, Julie Evans, Kevin D Evans
Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. We present a series of 5 cases of suspected KTS, while emphasizing the difficulties in distinguishing KTS from Parkes-Weber syndrome without diagnostic imaging and underscoring the importance of accurately classifying patients with the appropriate syndrome...
September 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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