Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
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چکیده
منابع مشابه
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large pedigree, with an unusually high number of patients with liver vascular malformations, both previously mapped loci have been excluded. The loci for two other inherited vascular malformation diseases, cerebral cavernous malformati...
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Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.
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While the literature pertaining to hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu disease) has been quite extensive, very few reports have dealt with the neurological manifestations of the disease. Occasional anatomical studies have appeared, but reports of neuropathological findings have been rare. The purpose of the present paper is to provide neuropathological observations in a pa...
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Hereditary haemorrhagic telangiectasia (HHT) is an autosomal, predominantly inherited disease characterized by diffuse telangiectases involving the skin, mucous membranes, lung, brain, gastrointestinal tract and liver. Peliosis hepatis is a rare, benign disorder causing sinusoidal dilatation and the presence of multiple blood-filled lacunar spaces within the liver. We report a case of an HHT pa...
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Telangiectasia-associated hepatic fibrosis (TAHF) in a 68-year-old woman with hereditary haemorrhagic telangiectasia (HHT) is described. The patient died of oat-cell carcinoma of the lung. In addition to the structural alterations which have been described previously in HHT, the liver exhibited focal midlobular hepatocytic necrosis and tumour metastases. The possibility that treatment of HHT wa...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.6.441