Cancer Institute A national cancer institute
designated cancer center

Sumaira Z. Aasi, MD

Publication Details

  • Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dube syndrome JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Schaffer, J. V., Gohara, M. A., McNiff, J. M., Aasi, S. Z., Dvoretzky, I. 2005; 53 (2): S108-S111


    Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.

    View details for DOI 10.1016/j.jaad.2004.11.021

    View details for Web of Science ID 000231081400003

    View details for PubMedID 16021156

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