1/36. Hereditary hemorrhagic telangiectasia with gingival lesion. review and case reports.A case of hereditary, hemorrhagic telangiectasia is described which has been under observation for more than 8 years. The clinical findings are discussed; light microscopic and electron microscopic findings as well as current research for a causative mechanism and recommended therapy are reviewed. The patient exhibited gingival telangiectatic participation. Another, even more severe case of this disease showed repeated, severe hemorrhage from mucosal lesions in the region of the incisive papilla, severe internal bleeding from the nasal mucosa and the gut and several punctate gingival telangiectases. The occurance of gingival lesions may not be as rare as thought. Such lesions may simply be rather inconspicuous.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
2/36. Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber syndrome in the same family.The authors present the case of three patients from the same family in whom hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber syndrome was diagnosed. The disease is rare and occurs with multiple telangiectases of the skin and mucosa, and pulmonary arteriovenous fistulae. The clinical status of our patients included multiple telangiectases of the skin and mucosa, recurrent epistaxis, exertion dyspnea and cyanosis. polycythemia and hypoxemia were observed in the blood. The clinical status and conventional radiological examination of the thoracic region, with the suspicion of arteriovenous (A-V) fistulae, pointed to HHT. A-V fistulae were confirmed by pulmonary angiography. The pulmonary A-V fistulae were operated in all three patients and diagnosis was confirmed by histopathological examination of the operated samples. Clinical improvement was observed after the operation and cyanosis, dyspnea, hypoxemia and polycythemia disappeared.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
3/36. Pulmonary, gastrointestinal and liver vascular malformations in Rendu-Osler disease.Hereditary hemorrhagic telangiectasia (HHT) is an angiodysplastic disorder transmitted in autosomal dominant fashion. This case report describes a 46-year-old woman with multiple arteriovenous malformations that eventually caused multiorgan failure. The diagnosis was made in the early childhood based on frequently recurring episodes of severe epistaxis. Telangiectases were found in the skin, the visible mucosal linings, gastrointestinal and bronchial mucosa and liver. Episodes of severe hemoptysis necessitated partial resection of the right lung middle lobe at the age of 22. Liver dysfunction associated with the primary disease was diagnosed by the characteristic clinical picture, laboratory findings and instrumental examinations including abdominal ultrasonography, upper endoscopy, liver CT venography.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
4/36. Osler-Weber-Rendu syndrome--pathological manifestations and autopsy considerations.An 18-year-old university student with Osler-Weber-Rendu disease collapsed in the bathroom. Attempted resuscitation was unsuccessful. Her past history included recurrent epistaxes, mucosal telangiectasias, intracranial arteriovenous malformations with previous hemorrhage, a single pulmonary arteriovenous malformation, recent onset of grand mal seizures, and depression. There was a positive paternal family history. At autopsy the pulmonary arteriovenous malformation was confirmed. In addition, within the brain there were widespread areas of gliosis with hemosiderin deposition and small vascular malformations. No other significant abnormalities were detected and toxicological screening revealed only moderately elevated levels of carbemazepine. death was attributed to epilepsy associated with glial scarring from previous microhemorrhages. The detection of vascular malformations in the lung or brain at autopsy should prompt careful examination of all tissues for similar lesions. Given the possibility of Osler-Weber-Rendu disease in such cases, fibroblast cultures should be undertaken to enable molecular studies to proceed. The heritable nature of this disorder necessitates accuracy of diagnosis at autopsy; once the diagnosis is confirmed family screening should be recommended.- - - - - - - - - - ranking = 0.5keywords = mucosa (Clic here for more details about this article) |
5/36. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).OBJECTIVE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Most cases are caused by mutations in the endoglin gene on chromosome 9 (HHT type 1) or the activin receptor-like kinase 1 gene on chromosome 12 (HHT type 2), which leads to telangiectases and arteriovenous malformations (AVM) of the skin, mucosa, and viscera. epistaxis is the most frequent presentation. Visceral involvement includes pulmonary, gastrointestinal, and cerebral AVMs, which have been reported predominantly in adults. The purpose of this article is to describe 9 children who presented with intracranial hemorrhage (ICH) secondary to cerebral AVM. None of these children was suspected of having HHT before the incident, despite family histories of the disease. methods: We report the first case of an ICH secondary to a cerebral AVM in a neonate confirmed to have HHT type 1 by molecular analysis. We also describe a series of 8 additional cases of ICH secondary to cerebral AVM in children presumed to have HHT. Examination of multiple affected members from each of these families, using well-accepted published criteria, confirmed the diagnosis of HHT. In addition, genetic linkage studies and/or mutation analysis identified endoglin as the disease-causing gene in 6 of these families. autopsy, imaging studies, and/or surgery confirmed the presence of cerebral AVMs and ICH in all 9 cases. CONCLUSION: Our report shows that infants and children with a family history of HHT are at risk for sudden and catastrophic ICH. A preemptive diagnosis may potentially identify and prevent more serious sequelae.- - - - - - - - - - ranking = 0.5keywords = mucosa (Clic here for more details about this article) |
6/36. A case of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease) with dystrophic calcinosis cutis and retinal lesions.A 65-year-old Japanese female developed a nodule on the distal interphalangealjoint of her right thumb. She also had multiple telangiectasias on her face, oral mucosa, tongue, nasal mucosa and upper extremities. A lip biopsy showed irregularly dilated capillaries and venules lined by flat endothelial cells. The nodule in the right thumb was resected. Histopathology revealed calcium deposits in the dermis. This case was diagnosed as dystrophic calcinosis cutis within hereditary hemorrhagic telangiectasia. Ophthalmologic examination showed bilateral retinal vascular lesions with dilated and tortuous retinal venules.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
7/36. A novel treatment for patients with hereditary haemorrhagic telangiectasia.Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by dermal, mucosal, and visceral telangiectases as well as pulmonary and cerebral arteriovenous malformations. Recurrent epistaxis occurs in the majority of patients, and by the very nature of the thin walled vessels involved it is often refractory to conventional forms of treatment. We present the case of an 82-year-old lady with intractable epistaxis secondary to HHT, that was successfully controlled by the application of fibrin glue.- - - - - - - - - - ranking = 0.5keywords = mucosa (Clic here for more details about this article) |
8/36. Percutaneous embolization to control epistaxis in Rendu-Osler-Weber disease.Recurrent epistaxis is the most common manifestation of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease), a disorder characterized by widely scattered visceral, dermal, and mucosal vascular lesions. Emergency measures applied locally may control acute hemorrhage, but seldom result in long-term benefit. Recently, we have had the opportunity of performing bilateral carotid angiographic examination on a patient with hereditary hemorrhagic telangiectasia who was suffereing from severe intractable epistaxis. At the time of angiographic examination, embolization of both internal maxillary arteries was accomplished, and control of the epistaxis was achieved. In the patient with severe epistaxis that is unresponsive to local measures, percutaneous embolization offers substantial advantages over surgical intervention.- - - - - - - - - - ranking = 0.5keywords = mucosa (Clic here for more details about this article) |
9/36. The pathology of acute hepatic disintegration in hereditary haemorrhagic telangiectasia.AIMS: Hereditary haemorrhagic telangiectasia is a rare inherited disease in which telangiectases affect skin, mucous membranes and the gastrointestinal tract. Hepatic involvement is common but usually asymptomatic. We report a case of acute hepatic disintegration in hereditary haemorrhagic telangiectasia, document the histopathological findings and present a hypothesis to explain them. methods AND RESULTS: The patient presented at the age of 34 years with abdominal pain, leading to the surgical removal of a severely inflamed gallbladder. Signs of liver damage became increasingly apparent over the next few weeks, with disruption of the intrahepatic biliary tree and marked vascular shunting, necessitating liver transplantation. Six months after the transplant a diagnosis of hepatic hereditary haemorrhagic telangiectasia was made. The principal features of hepatic hereditary haemorrhagic telangiectasia are periportal telangiectases and sinusoidal congestion and dilatation. Acute hepatic disintegration is characterized by disruption of liver structure, hepatocyte necrosis, haemorrhage and extravasation of bile. CONCLUSIONS: Periportal telangiectases in a liver biopsy are highly suggestive of hereditary haemorrhagic telangiectasia. Acute hepatic disintegration is likely to be a consequence of rupture of telangiectases and ischaemic necrosis of intrahepatic bile ducts. patients with hereditary haemorrhagic telangiectasia are at risk of acute hepatic disintegration following intra-abdominal sepsis.- - - - - - - - - - ranking = 3.3073032310439keywords = mucous membrane, membrane (Clic here for more details about this article) |
10/36. Hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare disorder characterized by arteriovenous communications in visceral organs. The diagnosis of HHT consists of recurrent epistaxis, mucocutaneous telangiectasis, visceral vascular lesion and familial occurrence. HHT can be definitely diagnosed with the presence of all these three criteria. The prevalence of liver involvement of HHT was reported to range from 8 to 31%. Herein, we present a 75-year-old male who was diagnosed as having HHT with liver involvement, based on the findings of recurrent epistaxis, mucosal telangiectasis on the lower lip and hepatic arteriovenous malformation. The clinical presentations of this patient are discussed, and the literature is reviewed.- - - - - - - - - - ranking = 0.5keywords = mucosa (Clic here for more details about this article) |
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