BEAN'S SYNDROME (BLUE RUBBER BLEB NEVUS SYNDROME - BRBNS) AS A GASTROINTESTINAL BLEEDING - CASE REPORT AND REVIEW OF THE LITERATURE

POLISH JOURNAL OF PATHOLOGY(2021)

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摘要
BRBNS is a rare syndrome of vascular malformations caused by the TEK mutation associated with numerous lesions of the skin and gastrointestinal tract. We pres-ent a case report of 41 year old man with severe anemia with recurrent bleedings. The detailed clinical, endoscopical and histopathological description is given as a wide range of differential diagnosis of vascular lesions based on pathophysiology and updated classification of vascular lesions. Clinicopathological diagnosis and treatment options of BRBNS are discussed.
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关键词
Bean's syndrome (BRBNS), vascular malformation, TEK mutation, GLUT1, hemangioma
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