Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus

Journal of the American Academy of Dermatology

Volumn 66, Issue 2, 2012, Pages 259.e1-259.e9

  Starink, Theo M ^a   Houweling, Arjan C ^a   Van Doorn, Martijn B A ^a   Leter, Edward M ^a   Jaspars, Elisabeth H ^a   Van Moorselaar, R Jeroen A ^a   Postmus, Piet E ^a   Johannesma, Paul C ^a   Van Waesberghe, Jan Hein ^a   Ploeger, Martijn H ^a   Kramer, Marieke T ^a   Gille, Johan J P ^a   Waisfisz, Quinten ^a   Menko, Fred H ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

angiofibroma; Birt Hogg Dub syndrome; discoid fibroma; fibrofolliculoma; FLCN; folliculin; sclerotic fibroma; trichodiscoma

Indexed keywords

ESTRONE;

ADOLESCENT; ADULT; AGED; ARTICLE; BIRT HOGG DUBE SYNDROME; CHILD; COMPARATIVE STUDY; FAMILIAL DISEASE; FAMILIAL MULTIPLE DISCOID FIBROMA; FEMALE; FIBROMA; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS;

EID: 84855846998     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2010.11.039     Document Type: Article

References (33)

1. A.R. Birt, G.R. Hogg, and W.J. Dubé Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons Arch Dermatol 113 1977 1674 1677 (Pubitemid 8241734)
2. Y. Hasumi, M. Baba, R. Ajima, H. Hasumi, V.A. Valera, and M.E. Klein Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2 Proc Natl Acad Sci U S A 106 2009 18722 18727
3. S.K. Khoo, S. Giraud, K. Kahnoski, J. Chen, O. Motorna, and R. Nickolov Clinical and genetic studies of Birt-Hogg-Dubé syndrome J Med Genet 39 2002 906 912 (Pubitemid 36009152)
4. L.S. Schmidt, M.L. Nickerson, M.B. Warren, G.M. Glenn, J.R. Toro, and M.J. Merino Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome Am J Hum Genet 76 2005 1023 1033 (Pubitemid 40705436)
5. J.R. Toro, M.-H. Wei, G.M. Glenn, M. Weinreich, O. Toure, and C. Vocke 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 45 2008 321 331 (Pubitemid 351839472)
6. F.H. Menko, M.A.M. van Steensel, S. Giraud, L. Friis-Hansen, S. Richard, and S. Ungari Birt-Hogg-Dubé syndrome: diagnosis and management Lancet Oncol 10 2009 1199 1206
7. M.-H. Wei, P.W. Blake, J. Shevchenko, and J.R. Toro The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome Hum Mutat 30 2009 E880 E890
8. D.H.K. Lim, P.K. Rehal, M.S. Nahorski, F. Macdonald, T. Claessens, and M. van Geel A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene Hum Mutat 31 2010 E1043 E1051
9. E.M. Leter, A.K. Koopmans, J.J.P. Gille, T.A.M. van Os, G.G. Vittoz, and E.F.L. David Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families J Invest Dermatol 128 2008 45 49 (Pubitemid 350249376)
10. T.M. Starink, L.S. Kisch, and C.J.L.M. Meijer Familial multiple trichodiscomas: a clinicopathologic study Arch Dermatol 121 1985 888 891 (Pubitemid 15070201)
11. F. Pinkus Ueber einen bisher unbekannten Nebenapparat am Haarsystem des Menschen: Haarscheiben Dermatol Z 9 1902 465 469
12. H. Pinkus, R. Coskey, and G.H. Burgess Trichodiscoma: a benign tumor related to Haarscheibe (hair disk) J Invest Dermatol 63 1974 212 218
13. K. Hashimoto, A.H. Mehregan, and M. Kumakiri Tumors of skin appendages 1987 Butterworths Boston p. 119-25
14. T. Schulz, and W. Hartschuh Birt-Hogg-Dubé-syndrome and Hornstein-Knickenberg-syndrome are the same: different sectioning technique as the cause of different histology J Cutan Pathol 26 1999 55 61 (Pubitemid 29041501)
15. A. Vincent, M. Farley, E. Chan, and W.D. James Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules J Am Acad Dermatol 49 2003 698 705 (Pubitemid 37210285)
16. K.O. Alsaad, N.A. Obaidat, and D. Ghazarian Skin adnexal neoplasms-part 1: an approach to tumors of the pilosebaceous unit J Clin Pathol 60 2007 129 144
17. D. Weedon Weedon's skin pathology 3rd Ed. 2010 Churchill Livingstone, Elsevier London 771 772
18. E. Grosshans, T. Dungler, and D. Hanau Le trichodiscome de Pinkus Ann Dermatol Venereol 108 1981 837 846 (Pubitemid 12220517)
19. L. Balus, F. Crovato, and A.S. Breathnach Familial multiple trichodiscomas J Am Acad Dermatol 15 1986 603 607 (Pubitemid 16004163)
20. J.G. Camarasa, P. Calderon, and A. Moreno Familial multiple trichodiscomas Acta Derm Venereol 68 1988 163 165 (Pubitemid 18097258)
21. M.M. Alsina, J. Ferrando, J.A. Bombi, A. Pou, and H. Torras Trichodiscomas múltiples familiares Med Cutan Ibero Lat Am 18 1990 30 34
22. T.M. Starink, M. Brakman, and H. Bril Familiaire multipele trichodiscomen (Birt-Hogg-Dubé syndroom?) Ned Tijdschr Dermatol Venereol 13 2003 167 168
23. W.H. Fujita, R.J. Barr, and J.L. Headley Multiple fibrofolliculomas with trichodiscomas and acrochordons Arch Dermatol 117 1981 32 35 (Pubitemid 11098618)
24. ThM Starink, and M.H. Brownstein Fibrofolliculoma: solitary and multiple types J Am Acad Dermatol 17 1987 493 496 (Pubitemid 17126695)
25. O.P. Hornstein Generalized dermal perifollicular fibromas with polyps of the colon Hum Genet 33 1976 193 197
26. O. Binet, J. Robin, M. Vicart, G. Ventura, and E. Beltzer-Garelly Fibromes périfolliculaires, polypose colique familiale, pneumothorax spontanés familiaux Ann Dermatol Venereol 113 1986 928 930 (Pubitemid 17018880)
27. A.D. Cohen, M.H. Grunwald, I. Avinoach, and S. Halevy Multiple agminated trichodiscomas in the earlobe J Am Acad Dermatol 49 2003 729 730 (Pubitemid 37210295)
28. T. Brenn, and P.H. McKee Tumors of the hair follicle P.H. McKee, E. Calonje, S.R. Granter, Pathology of the skin with clinical correlations 3rd Ed. 2005 Elsevier Mosby Philadelphia 1560 1562
29. J.V. Schaffer, M.A. Gohara, J.M. McNiff, S.Z. Aasi, and I. Dvoretzky Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg- Dubé syndrome J Am Acad Dermatol 53 Suppl 2005 S108 S111
30. L. Requena, C. Schöendorff, M.J. López, and E. Sánches-Yus Multiple trichodiscomas: histogenetical observations J Dermatol 18 1991 112 116
31. T.M. Starink, C.J.L.M. Meijer, and M.H. Brownstein The cutaneous pathology of Cowden's disease: new findings J Cutan Pathol 12 1985 83 93 (Pubitemid 15113204)
32. D.A. Lee, M.E. Grossman, P. Schneiderman, and J.T. Celebi Genetics of skin appendage neoplasms and related syndromes J Med Genet 42 2005 811 819 (Pubitemid 41598188)
33. I.M. Winship, and T.E. Dudding Lessons from the skin features of familial cancer Lancet Oncol 9 2008 462 472 (Pubitemid 351597796)