Matlike telangiectasias on the face, lips, tongue, ears, hands, and feet associated with internal bleeding is known as what syndrome? Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia. Most patients present with epistaxis. Gastrointestinal telangiectasias are common, and genitourinary, pulmonary, central nervous system (CNS), and hepatic lesions may also occur. It is inherited as an autosomal dominant disease and is caused by mutations in the endoglin or activin receptor, such as kinase genes, which encode for proteins that modulate transforming growth factor–beta superfamily signaling in vascular endothelial cells. Govani FS, Shovlin CL: Hereditary haemorrhagic telangiectasia: a clinical and scientific review, Eur J Hum Genet 17:860–871, 2009. |
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