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https://www.readbyqxmd.com/read/29469756/essential-telangiectasia-in-an-infant-a-diagnosis-to-be-considered
#1
Pablo Fernández-Crehuet, Ricardo Ruiz-Villaverde
Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus erythematous. We present an 11-month-old boy that presented because of telangiectasia located on the face and neck...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/24935454/-hereditary-hemorrhagic-telangiectasia-report-of-a-pediatric-case
#2
I Maaloul, H Aloulou, H Fourati, L Sfaihi, I Chabchoub, T Kamoun, Z Mnif, M Hachicha
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations...
July 2014: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/18220803/hereditary-haemorrhagic-telangiectasia-a-rare-disease-as-a-model-for-the-study-of-human-atherosclerosis
#3
G M Lenato, P Suppressa, P Giordano, G Guanti, E Guastamacchia, V Triggiani, L Amati, F Resta, V Covelli, E Jirillo, C Sabbà
Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber syndrome is an autosomal dominant disease characterized by local angiodysplasia affecting different organism districts. From a clinical viewpoint, HHT patients suffer from epistaxis, mucocutaneous telangiectases and arteriovenous malformations in various organs. Mutations in two known genes (ENG and ALK1) account for the majority of HHT patients. Additional loci are predicted, but the underlying genes are still to be identified. Moreover, SMAD4 mutations have been reported to cause JP-HHT combined syndrome...
2007: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/16706966/screening-for-children-from-families-with-rendu-osler-weber-disease-from-geneticist-to-clinician
#4
P Giordano, A Nigro, G M Lenato, G Guanti, P Suppressa, P Lastella, D DE Mattia, C Sabbà
BACKGROUND: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is characterized by telangiectases and arteriovenous malformations (AVMs) affecting skin, mucosae and internal organs. AVMs often remain clinically silent until provoking sudden serious complications, responsible for important morbidity and mortality which can occur both in adulthood and in children. The incidence of AVMs in HHT pediatric populations is unknown...
June 2006: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/16302622/endovascular-treatment-of-spinal-arteriovenous-fistula-in-a-young-child-with-hereditary-hemorrhagic-telangiectasia-case-report
#5
Mark J Stephan, Gary M Nesbit, Melinda L Behrens, Malcolm A Whitaker, Stanley L Barnwell, Nathan R Selden
Hereditary hemorrhagic telangiectasia ([HHT] or Osler-Weber-Rendu syndrome) can manifest as sudden onset of epistaxis or neurological deficit in a child with characteristic mucocutaneous telangiectasias or as an asymptomatic bruit with or without overlying cutaneous vascular lesions. The authors present a case study of a pediatric patient with HHT in whom a screening computerized tomography (CT) scan of the chest revealed an asymptomatic arteriovenous malformation (AVM) of the spine. An 18-month-old child with a strong family history of HHT, including fatal central nervous system (CNS) hemorrhage and pulmonary AVMs, presented with a cutaneous telangiectasia of the pinna...
November 2005: Journal of Neurosurgery
https://www.readbyqxmd.com/read/9090781/the-genetic-basis-of-pediatric-cardiovascular-disease
#6
REVIEW
A W Strauss, M C Johnson
Congenital heart disease (CHD), cardiomyopathy, and vasculopathies are common causes of mortality and morbidity in pediatrics, including the perinatal period. This article reviews evidence that single gene defects cause many of the pediatric heart diseases. Vasculopathies discussed include Marfan's syndrome, supravalvar aortic stenosis and Williams' syndrome, Alagille's syndrome, and hereditary telangiectasia, the Osler-Weber-Rendu syndrome. Genetic causes of hypertrophic cardiomyopathy caused by sarcomeric protein mutations (beta-cardiac myosin heavy chain) and of dilated cardiomyopathy secondary to structural protein deficiencies (dystrophin) are presented...
December 1996: Seminars in Perinatology
https://www.readbyqxmd.com/read/8192032/pediatric-radiology-case-of-the-day-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-disease
#7
D K Boal
No abstract text is available yet for this article.
June 1994: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/6297049/-iron-deficiency-anemia-hematologist-s-viewpoint
#8
G Schaison, P Cramer, G Tobelem
Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration...
November 25, 1982: La Semaine des Hôpitaux: Organe Fondé Par L'Association D'enseignement Médical des Hôpitaux de Paris
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