Birt-Hogg-Dubé syndrome: A review of the literature and the differential diagnosis of firm facial papules

Journal of the American Academy of Dermatology

Volumn 49, Issue 4, 2003, Pages 698-705

  Vincent, Analisa ^a   Farley, Mary ^b   Chan, Edward ^a   James, William D ^a,c  

^a Fort Sam Houston   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c 2 Rhodes Pavilion ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; BIRT HOGG DUBE SYNDROME; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE PREDISPOSITION; FAMILY; GENE LOCUS; GENETIC SUSCEPTIBILITY; HUMAN; PAPULAR SKIN DISEASE; PRIORITY JOURNAL; REVIEW;

EID: 0141533240     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1067/S0190-9622(03)01582-2     Document Type: Review

References (45)

1. Birt AR, Hogg GR, Dubé WJ, Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-7.
2. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400.
3. Lindor NM, Hand J, Burch PA, Gibson LE. Birt-Hogg-Dubé syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. Int J Derm 2001;40:653-6.
4. Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dubé syndrome. Int J Dermatol 1996;35:365-7.
5. Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, et al. Birt-Hogg-Dubé syndrome: a novel marker for kidney neoplasia. Arch Dermatol 1999;135:1195-202.
6. Binet O, Robin J, Vicart M, Ventura G, Beltzer-Garelly E. Familial perifollicular fibromas, colonic polyposis and recurrent spontaneous pneumothorax. Proceedings of the XVII World Congress of Dermatology. Berlin: Springer-Verlag; 1987. Abstracts vol II, No. 217.
7. Roth JS, Rabinowitz AD, Benson M, Grossman ME. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1993;29:1055-6.
8. 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 1999;21:369-74.
9. Liu V, Kwan T, Page EH. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Derm 2000;43:1120-2.
10. Rongioletti F, Hazini R, Gianotti G, Rebora A. Fibrofolliculomas, trichodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis. Clin Exp Dermatol 1989;14:72-4.
11. Haimowitz JE, Halpern AC, Heymann WR. Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dubé syndrome. Arch Dermatol 1997;133:1163.
12. Hornstein OP, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon - a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 1975;253:161-75.
13. Vincent A, Farley M, Chan E, James WD. Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors. J Am Acad Dermatol In press.
14. Weintraub R, Pinkus H. Multiple fibrofolliculomas (Birt-Hogg-Dubé) associated with a large connective tissue nevus. J Cutan Pathol 1977;4:289-99.
15. Nadershahi NA, Wescott WB, Egbert B. Birt-Hogg-Dubé syndrome: a review and presentation of the first case with oral lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997;83:496-500.
16. Weirich G, Glenn G, Junker K, Merino M, Storkel S, Lubensky I, et al. Familial renal oncocytoma: clinicopathological study of 5 families. J Urol 1998;160:335-40.
17. Hornstein OP. Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet 1976;33:193-7.
18. Hornstein OP, Knickenberg M, Morl M. Multiple dermal perifollicular fibromas with polyps of the colon - report of a peculiar clinical syndrome. Acta Hepatogastroenterol 1976;23:53-8.
19. Binet O, Robin J, Vicart RM, Ventura G, Beltzer-Garelly E. Fibromes perifolliculaires, polypose colique familiale, pneumothorax spontanes famiaux. Ann Dermatol Venereol 1986;113:928-30.
20. Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001;69:876-82.
21. 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;26:55-61.
22. Balus L, Fazio M, Sacerdoti G, Morrone A, Marmo W. Fibrofolliculomes, trichodiscomes et acrochordons. Syndrome de Birt-Hogg-Dubé. Ann Dermatol Venereol 1983;110:601-9.
23. Yamamoto T, Katayama I, Nishioka K. Multiple perifollicular fibroma. Nippon Rinsho 1995;53:2759-63.
24. Fujita WH, Barr RJ, Headley JL. Multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1981;117:32-5.
25. Pinkus F. Ueber Hautsinnesorgane neben dem menschlichen Haar (Haarscheiben) und ihre vergleichend-anatomische Bedeutung. Arch Mikrosc Anat 1905;65:121-79.
26. Pinkus H, Coskey RJ, Burgess G. Trichodiscoma. A benign tumor related to Haarscheibe (hair disk). J Invest Dermatol 1974;63:212-8.
27. Steffen C, Ackerman AB. Fibrofolliculoma, trichodiscoma and Birt-Hogg-Dubé syndrome. In: Ackerman AB, editor. Neoplasms with sebaceous differentiation. Philadelphia: Lea & Febiger; 1994. p. 205-37.
28. Scalvenzi M, Argenziano G, Sammarco E, Delfino M. Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubé. J Eur Acad Dermy Venereol 1998;11:45-7.
29. Collins GL, Somach S, Morgan MB. Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dubé syndrome and sporadic disease. J Cutan Pathol 2002;29:529-33.
30. Wick MR, Swanson PE. Hair follicle tumors. Chicago: ASCP Press; 1991.
31. Junkins-Hopkins JM, Cooper PH. Multiple perifollicular fibromas: a report of a case and analysis of the literature. J Cutan Pathol 1994;21:467-71.
32. Kupres K, Meffert J. Birt-Hogg-Dubé. http://www.emedicine. com/derm/topic 622.htm. [Updated May 2001, accessed November 20, 2001].
33. Moreno A, Puig L, de Moragas JM. Multiple fibrofolliculomas and trichodiscomas. Dermatologica 1985;171:338.
34. Pippione M, Depaoli MA, Aloi FG. Fibroma perifollicolare; studio di tre casi. G Ital Dermaol Venereol 1981;116:127-9.
35. Mascaro JM, Galy-Mascaro C, Pinol-Aguade J. Fibroma perifolicular. Estudio dritico a proposito de un caso. Med Cutan Ibero Lat Am 1969;4:163.
36. Bourlond-Reinert L, Hermant J, Bourlond A. Fibromes perifolliculaires. Dermatologica 1979;158:89-95.
37. De Weert J. Perifollicular fibromas. Dermatologica 1982;165:511-4.
38. Toro JR, Shevchenko YO, Compton JG, Bale SJ. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dubé syndrome. J of Med Genet 2002;39:E10.
39. Nickerson ML, Warren MB, Toro JR, Vatrosova V, Glenn G, Turner ML, 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 2002;2:157-64.
40. Ubogy-Rainey Z, James WD, Lupton GP, Rodman OG. Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1987;16:452-7.
41. Prieto VG, Shea CR. Trichoepithelioma. http://www.emedicine. com/DERM/topic429.htm [Updated June 2002, accessed August 22, 2002].
42. Miller C. Cowden disease (multiple hamartoma syndrome). http://www.emedicine.com/DERM/topic86.htm [Update July 2002, accessed August 22, 2002].
43. Nambi R. Tuberous sclerosis. http://www.emedicine.com/derm/topic438.htm [Updated June 2001, accessed November 20, 2001].
44. Baugh WP, Barnette D, Kerr J. Trichilemmoma. http:/www. emedicine.com/DERM/topic428.htm [Updated June 2001, accessed November 20, 2001].
45. Keough GC, Pierson JC, McCollough ML. A Congenital pink plaque. Report of a case of basaloid follicular hamartoma. Arch Dermatol 1997;133:381-6.