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Images of Memorable Cases: Cases 115 & 116

Module by: Herbert L. Fred, MD, Hendrik A. van Dijk

Cases_115_116-pres1-1.jpg Case 115

Cases_115_116-pres1-2.jpg Case 116

115 & 116 Hereditary hemorrhagic telangiectasia

Osler-Weber-Rendu disease. An autosomal dominant systemic fibrovascular dysplasia in which varying numbers of telangiectases, arteriovenous malformations, and aneurysms appear throughout the body. The manifestations are diverse and stem directly from these vascular abnormalities 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 dilatation of 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 increase in number with age. They occur most commonly on the face, lips, tongue, ears, conjunctivae, palms, and soles.

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