Birt-Hogg-Dube Syndrome Differential Diagnoses

  • Author: Krista K Buckley, DO; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Nov 7, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Krista K Buckley, DO  Dermatologist, Annapolis Dermatology Center

Krista K Buckley, DO, is a member of the following medical societies: American Academy of Dermatology and Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Jeffrey Meffert, MD  Assistant 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, and Texas Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Franklin Flowers, MD  Chief, Division of Dermatology, Professor, Department of Medicine and Otolaryngology, Affiliate Associate Professor of Pediatrics and Pathology, University of Florida College of Medicine

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

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, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

  1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. Dec 1977;113(12):1674-7. [Medline].

  2. De la Torre C, Ocampo C, Doval IG, Losada A, Cruces MJ. Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature. Am J Dermatopathol. Aug 1999;21(4):369-74. [Medline].

  3. Fujita WH, Barr RJ, Headley JL. Multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. Jan 1981;117(1):32-5. [Medline].

  4. Haimowitz JE, Halpern AC, Heymann WR. Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome. Arch Dermatol. Sep 1997;133(9):1163, 1166. [Medline].

  5. Starink TM, Kisch LS, Meijer CJ. Familial multiple trichodiscomas. A clinicopathologic study. Arch Dermatol. Jul 1985;121(7):888-91. [Medline].

  6. Ubogy-Rainey Z, James WD, Lupton GP, Rodman OG. Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dube syndrome. J Am Acad Dermatol. Feb 1987;16(2 Pt 2):452-7. [Medline].

  7. Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dube Syndrome. Int J Dermatol. Aug 2005;44(8):668-73. [Medline].

  8. Junkins-Hopkins JM, Cooper PH. Multiple perifollicular fibromas: report of a case and analysis of the literature. J Cutan Pathol. Oct 1994;21(5):467-71. [Medline].

  9. Adley BP, Smith ND, Navar XJ. Birt-Hogg-Dube syndrome: clinicpathologic findings and genetic alterations. Arch Pathol Lab Med. 2006;December 130 (12):1865-1870.

  10. Roth JS, Rabinowitz AD, Benson M, Grossman ME. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. Dec 1993;29(6):1055-6. [Medline].

  11. Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet. Oct 2001;69(4):876-82. [Medline].

  12. Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. Oct 1999;135(10):1195-202. [Medline].

  13. Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med. Jul 1 2005;172(1):39-44. [Medline].

  14. Schmidt LS. Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. Dec 2004;4(8):877-85. [Medline].

  15. 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. May 15 2007;175(10):1044-53. [Medline].

  16. Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev. Apr 2002;11(4):393-400. [Medline].

  17. Liu V, Kwan T, Page EH. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. Dec 2000;43(6):1120-2. [Medline].

  18. Nadershahi NA, Wescott WB, Egbert B. Birt-Hogg-Dube syndrome: a review and presentation of the first case with oral lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. Apr 1997;83(4):496-500. [Medline].

  19. 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. Aug 2005;53(2 Suppl 1):S108-11. [Medline].

  20. Vincent A, Farley M, Chan E, James WD. Birt-Hogg-Dube syndrome: two patients with neural tissue tumors. J Am Acad Dermatol. Oct 2003;49(4):717-9. [Medline].

  21. Cocciolone RA, Crotty KA, Andrews L, Haass NK, Moloney FJ. Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility. Arch Dermatol. Nov 2010;146(11):1316-8. [Medline].

  22. Claessens T, Weppler SA, van Geel M, et al. Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol. Oct 2010;7(10):583-7. [Medline].

  23. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. Jun 2005;76(6):1023-33. [Medline].

  24. Nickerson ML, Warren MB, Toro JR, et al. 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. Aug 2002;2(2):157-64. [Medline].

  25. Khoo SK, Kahnoski K, Sugimura J, et al. Inactivation of BHD in sporadic renal tumors. Cancer Res. Aug 1 2003;63(15):4583-7. [Medline].

  26. 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. Oct 17 2006;103(42):15552-7. [Medline].

  27. Baba M, Furihata M, Hong SB, Tessarollo L, Haines DC, Southon E. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst. Jan 16 2008;100(2):140-54. [Medline].

  28. 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. Nov 2006;155(5):1067-9. [Medline].

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

  30. Shin WW, Baek YS, Oh TS, Heo YS, Son SB, Oh CH, et al. Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. Ann Dermatol. Oct 2011;23:S193-6. [Medline]. [Full Text].

  31. Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. Jun 2008;45(6):321-31. [Medline]. [Full Text].

  32. 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. Sep 2009;30(9):E880-90. [Medline].

  33. Lim DH, Rehal PK, Nahorski MS, et al. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat. Jan 2010;31(1):E1043-51. [Medline].

  34. Vincent A, Farley M, Chan E, James WD. Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol. Oct 2003;49(4):698-705. [Medline].

  35. Ayo DS, Aughenbaugh GL, Yi ES, Hand JL, Ryu JH. Cystic lung disease in Birt-Hogg-Dube syndrome. Chest. Aug 2007;132(2):679-84. [Medline].

  36. Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. Int J Dermatol. May 1996;35(5):365-7. [Medline].

  37. Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. Dec 2009;10(12):1199-206. [Medline].

  38. 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. Jan 1999;26(1):55-61. [Medline].

  39. Gupta P, Eshaghi N, Kamba TT, Ghole V, Garcia-Morales F. Radiological findings in Birt-Hogg-Dubé syndrome: a rare differential for pulmonary cysts and renal tumors. Clin Imaging. Jan-Feb 2007;31(1):40-3. [Medline].

  40. Collins GL, Somach S, Morgan MB. Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. J Cutan Pathol. Oct 2002;29(9):529-33. [Medline].

  41. Heenan PJ. Tumors of the fibrous tissue involving the skin. In: Elder D, Elenitsas R, Jaworsky C, Johnson B Jr, eds. Lever's Histopathology of the Skin. 8th ed. Lippincott Wilkins & Williams; 1997:872-4.

  42. Pinkus H, Coskey R, Burgess GH. Trichodiscoma. A benign tumor related to haarscheibe (hair disk). J Invest Dermatol. Aug 1974;63(2):212-8. [Medline].

  43. Gambichler T, Wolter M, Altmeyer P, Hoffman K. Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. J Am Acad Dermatol. Nov 2000;43(5 Pt 1):856-8. [Medline].

  44. Jacob CI, Dover JS. Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. Arch Dermatol. Jan 2001;137(1):98-9. [Medline].

 
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