Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome

    May 2015 in “ JAMA Dermatology
    Ohara Aivaz, Suzanne Berkman, Lindsay Middelton, W. Marston Linehan, John J. DiGiovanna, Edward W. Cowen
    TLDR Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
    The document discussed the presence of comedonal and cystic fibrofolliculomas in 4 patients with Birt-Hogg-Dube Syndrome (BHDS), a rare genetic condition. It highlighted that these skin lesions were characteristic of BHDS and could aid in its diagnosis, emphasizing the importance of recognizing these dermatological manifestations for early detection and management. The study underscored the need to include BHDS in the differential diagnosis of conditions with extensive open comedones to facilitate timely surveillance of renal cancer and disease screening in relatives. The research provided valuable insights into the clinical presentation of BHDS, contributing to better diagnostic criteria and patient care.
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