0.104 Images of memorable cases: cases 115 & 116

115&116 hereditary hemorrhagic telangiectasia

Osler-Weber-Rendu disease. An autosomal dominant systemic fibrovascular dysplasia in which varying numbers oftelangiectases, arteriovenous malformations, and aneurysms appear throughout the body. The manifestations are diverse and stem directly from these vascularabnormalities in the nose, skin, lung, brain, and gastrointestinal tract. Hemorrhage and anemia are the two most frequent consequences.

The clinical hallmark of this disease— illustrated by the two patients shown—is the telangiectasis, a focal dilatationof postcapillary venules. These bright red to purple lesions range in size from pinpoint to about 3 mm in diameter, are flat, blanch on pressure, and increasein number with age. They occur most commonly on the face, lips, tongue, ears,conjunctivae, palms, and soles.