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

comedonal fibrofolliculomas cystic fibrofolliculomas Birt-Hogg-Dube syndrome BHD lesions renal cancer phenotypic features kidney cancer

Studysummary This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications. Our plain-language summary of this paper — not a Tressless recommendation.

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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research Folliculin Encoded by the BHD Gene Interacts with a Binding Protein, FNIP1, and AMPK, and Is Involved in AMPK and mTOR Signaling

475 citations , October 2006 in “Proceedings of the National Academy of Sciences”

This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.