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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Case 218: Birt-Hogg-Dubé syndrome
Carlos A Zamora1, Steven P Rowe, Karen M Horton
1From The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 601 N Caroline St, Room 3251, Baltimore, MD 21287.
Abstract:
History A 53-year-old man presented to the emergency department with subacute poorly localized abdominal pain that was increasing in intensity. He had a history of spontaneous pneumothoraces and skin lesion biopsy. Clinical examination revealed numerous small dome-shaped flesh-colored papules on the head and neck, as well as multiple palpable soft pliable nontender subcutaneous tumors scattered over the chest, abdomen, and extremities. Laboratory test results were unremarkable. The patient underwent contrast material-enhanced multidetector computed tomography (CT) of the chest, abdomen, and pelvis after intravenous administration of 120 mL of iohexol (Omnipaque 350; GE Healthcare, Princeton, NJ) infused at a rate of 3 mL/sec.
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