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Belousova I.E.

Kirov Military Medical Academy

Shpilyuk R.G.

Kirov Military Medical Academy

Chepushtanova K.O.

Kirov Military Medical Academy

Gorbunov Yu.G.

Kirov Military Medical Academy

Kazakov D.V.

Charles University

Are multiple trichodiscomas/fibrofolliculomas the Birt-Hogg-Dubé syndrome?

Authors:

Belousova I.E., Shpilyuk R.G., Chepushtanova K.O., Gorbunov Yu.G., Kazakov D.V.

More about the authors

Journal: Russian Journal of Archive of Pathology. 2021;83(3): 45‑51

DOI: 10.17116/patol20218303145

Views: 2665

Downloaded: 106

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To cite this article:

Belousova IE, Shpilyuk RG, Chepushtanova KO, Gorbunov YuG, Kazakov DV. Are multiple trichodiscomas/fibrofolliculomas the Birt-Hogg-Dubé syndrome?. Russian Journal of Archive of Pathology. 2021;83(3):45‑51. (In Russ.)
https://doi.org/10.17116/patol20218303145

Подписка 2025 (Russian Journal of Archive of Pathology)
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Birt-Hogg-Dubé syndrome is a rare autosomal dominant disease caused by a mutation in the FLCN gene and presents with a triad of multiple fibrofolliculomas, trichodiscomas, and masses that clinically resemble fibroepithelial polyps (acrochordones), accompanied by an increased risk of kidney tumors and lung cysts. The paper provides a literature review supplemented by clinical cases and the morphological pattern of skin lesions. It presents the clinical and morphological features of cutaneous manifestations of the syndrome and gives diagnostic criteria.

Keywords:

fibrofolliculoma
trichodiscoma
Birt-Hogg-Dubé syndrome
kidney tumors
spontaneous pneumothorax

Authors:

Belousova I.E.

Kirov Military Medical Academy

Shpilyuk R.G.

Kirov Military Medical Academy

Chepushtanova K.O.

Kirov Military Medical Academy

Gorbunov Yu.G.

Kirov Military Medical Academy

Kazakov D.V.

Charles University

Received:

04.02.2021

Accepted:

05.03.2021

List of references:

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  2. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977;113(12):1674-1677. https://doi.org/10.1001/archderm.1977.01640120042005
  3. Balus L, Fazio M, Sacerdoti G, Morrone A, Marmo W. Fibrofolliculoma, trichodiscoma and acrochordon. The Birt-Hogg-Dubé syndrome, Ann Dermatol Venereol. 1983;110(8):601-609. 
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  17. Mikhailenko DS, Lyubchenko LN, Zaletaev DV. DNA diagnostics of hereditary kidney cancer. Vestnik RONTs im. N.N. Blokhina RAMN. 2010;21(2):10-18. (In Russ.).
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  19. Kazakov D, Michal M, Kacherovska D, McKee P. Cutaneous adnexal tumors. 1st ed. Lippincott Williams & Wilkins; 2012.
  20. Pinkus H. Premalignant fibroepithelial tumors of skin. AMA Arch Derm Syphilol. 1953;67(6):598-615.  https://doi.org/10.1001/archderm.1953.01540060060009
  21. Zackheim HS, Pinkus H. Perifollicular fibromas. Arch Dermatol. 1960;82:913-917.  https://doi.org/10.1001/archderm.1960.01580060067008
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  26. Schulz T, Hartschuh W. Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol. 1999;26(1):55-61.  https://doi.org/10.1111/j.1600-0560.1999.tb01792.x
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  28. Liu V, Kwan T, Page EH. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. 2000;43(6):1120-1122. https://doi.org/10.1067/mjd.2000.109288
  29. Rongioletti F, Hazini R, Gianotti G, Rebora A. Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis. Clin Exp Dermatol. 1989;14(1):72-74.  https://doi.org/10.1111/j.1365-2230.1989.tb00890.x
  30. Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002;2(2):157-164.  https://doi.org/10.1016/s1535-6108(02)00104-6

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