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November 2010

Multiple Desmoplastic Melanomas in Birt-Hogg-Dubé Syndrome and a Proposed Signaling Link Between Folliculin, the mTOR Pathway, and Melanoma Susceptibility

Author Affiliations

Author Affiliations: Department of Dermatology (Drs Cocciolone, Haass, and Moloney), Sydney Melanoma Diagnostic Centre (Drs Crotty, Haass, and Moloney), and Department of Molecular and Clinical Genetics (Dr Andrews), Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Centenary Institute of Cancer Medicine and Cell Biology, Newtown, New South Wales, Australia (Dr Haass); and Discipline of Dermatology, University of Sydney, Camperdown (Drs Haass and Moloney).

Arch Dermatol. 2010;146(11):1316-1318. doi:10.1001/archdermatol.2010.333

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder characterized by the development of cutaneous and systemic tumors.1 The BHD gene (OMIM 135150) codes for the protein folliculin, which is expressed in multiple tissues including kidney, lung, and skin.1 Folliculin is thought to play a role in tumor suppression exerting an inhibitory effect on the growth-promoting mammalian target of rapamycin (mTOR) pathway.2 Mutations observed within the BHD gene in BHDS lead to the expression of inactive folliculin, ultimately resulting in mTOR pathway activation.3 Unregulated mTOR activation promotes cell growth and proliferation, as observed in melanoma pathogenesis.3,4

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