Definition: a hereditary, systemic vasculopathy characterized by telangiectasia on the skin and mucosa, particularly in the area of the face (nose, lips, tongue)
Pattern of inheritance: autosomal dominant
Pathophysiology: mutations in genes which code for TGF-β receptors (e.g., endoglin or ALK-1) → structural defects in the vessel wall → postcapillary venous pooling → formation of small and large arteriovenous shunts