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Images in Medicine: Recognizing Hereditary Hemorrhagic Telangiectasia Through Mucocutaneous Findings and Its
Stephanie Khodzandi1, Muhammad Rajib Hossain1, Evan Moritz1
1Internal Medicine, Jamaica Hospital Medical Center, New York, USA.
Abstract:
Hereditary hemorrhagic telangiectasia, or Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder characterized by dysregulated angiogenesis due to abnormalities in the transforming growth factor-β (TGF-β)/bone morphogenetic protein (BMP) signaling pathway that result in mucocutaneous telangiectasias and visceral arteriovenous malformations, leading to recurrent bleeding and multisystem involvement. This image-based case highlights characteristic mucocutaneous telangiectasias and illustrates the challenges of long-term disease management, including recurrent hospitalizations and limited durability of vascular interventions. The case emphasizes the importance of coordinated outpatient care and consideration of targeted therapies to reduce morbidity and bleeding recurrence.
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