Etiology • Not uncommon, familial (autosomal-dominant) mucocutaneous
vascular disease • Some cases may be nonfamilial (spontaneous mutation). • Arteriovenous (eg, pulmonary) malformations also can occur.
Clinical Presentation • Multifocal, macular to slightly papular red lesions of skin and
mucosa • Most common on lips, tongue, buccal mucosa, finger tips • Commonly associated with epistaxis due to involvement of
nasal mucosa • Increase in number and prominence with age • Blanch under pressure (diascopy positive) • Lesions can affect gastrointestinal mucosa, which may rupture
with associated signs of chronic gastrointestinal blood loss; may produce anemia
Diagnosis • Family history • Distribution of lesions
Differential Diagnosis • CREST syndrome (calcinosis cutis, Raynaud’s phenomenon,
esophageal dysfunction, sclerodactyly, telangiectasia) • Chronic hepatitis • Radiation-induced vascular alterations
Treatment • Observation • Monitoring of pulmonary lesions; embolization if indicated
Prognosis • Lifelong follow-up/monitoring • 4 to 10% death rate from complications of the disease