Birt-Hogg-Dube Syndrome Clinical Presentation

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24. Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med. 2007 May 15. 175(10):1044-53. [Medline]. [Full Text].

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32. Schaffer JV, Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. 2005 Aug. 53(2 Suppl 1):S108-11. [Medline].

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40. Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010 Mar. 162 (3):527-37. [Medline].

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42. Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, et al. Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet. 2013 Oct. 21 (10):1169-72. [Medline]. [Full Text].

43. Bessis D, Giraud S, Richard S. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol. 2006 Nov. 155(5):1067-9. [Medline].

44. Leter EM, Koopmans AK, Gille JJ, et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol. 2008 Jan. 128(1):45-9. [Medline].

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47. Wei MH, Blake PW, Shevchenko J, Toro JR. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat. 2009 Sep. 30(9):E880-90. [Medline].

48. Hasumi H, Baba M, Hasumi Y, Lang M, Huang Y, Oh HF, et al. Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Proc Natl Acad Sci U S A. 2015 Mar 31. 112 (13):E1624-31. [Medline].

49. Baba M, Hong SB, Sharma N, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A. 2006 Oct 17. 103(42):15552-7. [Medline]. [Full Text].

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51. Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, et al. Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PLoS One. 2012. 7(11):

52. Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, et al. Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. Hum Mutat. 2011 Aug. 32 (8):921-9. [Medline].

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Krista K Buckley, DO Dermatologist, Annapolis Dermatology Center

Krista K Buckley, DO is a member of the following medical societies: American Academy of Dermatology, Maryland Dermatologic Society

Disclosure: Nothing to disclose.

Michelle Bongiorno Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine

Michelle Bongiorno is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Franklin Flowers, MD Department of Dermatology, Professor Emeritus Affiliate Associate Professor of Pathology, University of Florida College of Medicine

Franklin Flowers, MD is a member of the following medical societies: American College of Mohs Surgery

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD † Former Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Mary Farley, MD Dermatologic Surgeon/Mohs Surgeon, Anne Arundel Surgery Center

Disclosure: Nothing to disclose.

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