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Rendu osler syndrome

R Ben Salah, F Frikha, D Chebbi, I Chabchoub, Z Bahloul
Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Venous thromboembolic disease is a poor prognostic factor in this disease given the risk of increased bleeding caused by anticoagulant therapy. We report a new case of a 56-year-old patient with Osler disease who developed recurrent thromboembolic venous disease when anticoagulants were discontinued. According to a review of the literature, this association does not appear to be fortuitous and is a factor of disease severity...
February 2019: Journal de Médecine Vasculaire
Thomas Mettang, Markus Streit
Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Some of these are autoimmune diseases, such as systemic lupus erythematodes, dermatomyositis or the anti-synthetase-syndrome. Others are genetic diseases with benign or malignant neoplasias (Peutz-Jeghers-syndrome, neurofibromatosis, tuberous sclerosis, Birt-Hogg-Dubé-syndrome, Cowden-syndrome)...
November 2018: Deutsche Medizinische Wochenschrift
L Harrison, A Kundra, P Jervis
BACKGROUND: Hereditary haemorrhagic telangiectasia is an autosomal dominant condition, characterised by mucocutaneous telangiectasia, aneurysm and arteriovenous malformations. Thalidomide has been used as a therapeutic strategy for refractory epistaxis in hereditary haemorrhagic telangiectasia patients. This review set out to examine the evidence for using thalidomide in the management of refractory epistaxis in hereditary haemorrhagic telangiectasia patients. METHODS: A systematic search of the available literature was performed using Medline, Embase, Cochrane Library and NHS Evidence databases, from inception to December 2017...
October 2018: Journal of Laryngology and Otology
Andrew W Hahn, Sumanta K Pal, Neeraj Agarwal
No abstract text is available yet for this article.
August 23, 2018: Oncologist
L A Boccalatte, M G Nassif, M F Figari
Temporomandibular joint dislocation (TMJ) is an infrequent clinical situation, representing 3% of all the human body's dislocations. The etiological factors reported are associated to alterations typical of the joint or of the muscular-ligament apparatus, or to clinical conditions that may cause dislocation. We present the case of a 46-year-old patient with hereditary hemorrhagic telangiectasia with bilateral dislocation of the TMJ. There are several potential causes (antipsychotics, intubation, etc.) although the deposit of manganese in the basal ganglia that produce extrapyramidal symptoms could be the most consistent cause...
March 2018: Journal of Surgical Case Reports
Alexander Makatsariya, Lyudmila Radetskaya, Viktoriya Bitsadze, Jamilya Khizroeva, Nadin Khamani, Natalya Makatsariya
BACKGROUND: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. AIM: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias...
September 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Athena Kritharis, Hanny Al-Samkari, David J Kuter
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include ENG , ACVRL1/ALK1 , and MADH4/SMAD4 , among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure...
September 2018: Haematologica
Ricardo Alicea-Guevara, Michael Cruz Caliz, Jose Adorno, Ricardo Fernandez, Kelvin Rivera, Gustavo Gonzalez, Ricardo Alan Hernandez-Castillo, Rosangela Fernandez, Christian Castillo Latorre
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large anterior, left lower lobe arteriovenous malformation. The patient underwent a pulmonary angiogram with embolization of a large left lung arteriovenous malformation, which proved to be successful in controlling the bleeding...
March 2018: Oxford Medical Case Reports
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
Xavier Verhelst, Anja Geerts, Hans Van Vlierberghe, Peter Smeets, Clarisse Lecluyse
We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement.
January 2018: Case Reports in Gastroenterology
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
Andreas J Askim, Alexander S Thrane, Petter Giaever, Rune Andersen, Jørgen Krohn
No abstract text is available yet for this article.
March 2018: Acta Ophthalmologica
Samuel B Jackson, Nicholas P Villano, Jihane N Benhammou, Michael Lewis, Joseph R Pisegna, David Padua
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease...
October 2017: Digestive Diseases and Sciences
Inna Krynytska, Mariya Marushchak, Anna Mikolenko, Anzhela Bob, Iryna Smachylo, Ludmyla Radetska, Olga Sopel
Hepatopulmonary syndrome (HPS) is a severe complication of advanced liver disease associated with an extremely poor prognosis. HPS is diagnosed in 4-47% of patients with cirrhosis and in 15-20% of candidates for liver transplantation. In addition, severe hypoxia is associated with a high risk of complications of liver transplantation (a 30% chance during the first 90 days) and increases the gap between transplantation and improving arterial oxygenation. The pathogenesis of HPS is not fully understood, and no effective pharmacological treatment has been developed yet...
November 20, 2017: Bosnian Journal of Basic Medical Sciences
Alex Roberto Ramírez Mejía, Miguel Yus Fuertes, Manuela Jorquera Moya
The diagnosis of intracranial focal lesions based on imaging studies is a challenge. In brain abscess, proton magnetic resonance spectroscopy (1H-MRS) is useful to define etiology, differentiating anaerobic from aerobic pathogens and inclusive sterile abscess based on the behavior of certain metabolites. We report a patient with Rendu-Osler-Weber syndrome, pulmonary arteriovenous fistulas, and brain abscesses characterized by brain magnetic resonance imaging (MRI), with a spectroscopy pattern compatible with anaerobic infection...
April 2016: NMC Case Report Journal
Jason E Cohn, Joshua Scharf
No abstract text is available yet for this article.
July 2017: Otolaryngology—Head and Neck Surgery
Kunal Amin, Douglas Mckay
Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT...
March 2017: Journal of the American Podiatric Medical Association
Vincenzo Di Crescenzo, Filomena Napolitano, Alessandro Vatrella, Pio Zeppa, Paolo Laperuta
Pulmonary arteriovenous malformations (PAVMs), although most commonly congenital, are usually detected later in life. CASE REPORT: We present a case of a 19-year-old woman with no previous history of AVM or telangiectasia, who presented dyspnea and hypoxia by massive left hemothorax in the 34th week of gestation. After emergent cesarean delivery, a chest computed tomography (CT) with i.v. contrast showed a likely 3 cm area of active contrast in left lower lung. Chest tube placement revealed about 2 liters of blood...
2015: Open Medicine (Warsaw, Poland)
Rossella Masiello, Carlo Iadevaia, Edoardo Grella, Carmelindo Tranfa, Francesco Cerqua, Giovanni Rossi, Giuseppe Santoro, Bruno Amato, Aldo Rocca, Roberta De Dona, Sabrina Lavoretano, Fabio Perrotta
Pulmonary arteriovenous Malformations (PAVMs) are a rare vascular alteration characterized by abnormal communications between the pulmonary arteries and veins resulting in an extracardiac right-to-left (R-L) shunt. The majority of PAVMs are associated with an autosomal dominant vascular disorder also known as Osler-Weber-Rendu Syndrome. PAVMs appearance can be both single and multiple. Clinical manifestations include hypoxemia, dyspnea cyanosis, hemoptysis and cerebrovascular ischemic events or abscesses. We report a case of an 18 year old female with severe respiratory failure caused by a relapse of multiple unilateral pulmonary arterovenous fistula...
2015: Open Medicine (Warsaw, Poland)
Marie-José Goumans, Peter Ten Dijke
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic telangiectasia and Marfan syndrome. Disturbed TGF-β signaling can also cause nonhereditary disorders like atherosclerosis and cardiac fibrosis. Accordingly, cell culture studies using endothelial cells or smooth muscle cells (SMCs), cultured alone or together in two- or three-dimensional cell culture assays, on plastic or embedded in matrix, have shown that TGF-β has a pivotal effect on endothelial and SMC proliferation, differentiation, migration, tube formation, and sprouting...
February 1, 2018: Cold Spring Harbor Perspectives in Biology
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