Birt–Hogg–Dubé syndrome with clear-cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation
K. Imada
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Dainichi
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan
Search for more papers by this authorA. Yokomizo
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Tsunoda
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorY.H. Song
Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorA. Nagasaki
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorD. Sawamura
Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan
Search for more papers by this authorW. Nishie
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorH. Shimizu
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorS. Fukagawa
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorK. Urabe
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorM. Furue
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Hashimoto
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan
Search for more papers by this authorS. Naito
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorK. Imada
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Dainichi
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan
Search for more papers by this authorA. Yokomizo
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Tsunoda
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorY.H. Song
Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorA. Nagasaki
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorD. Sawamura
Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan
Search for more papers by this authorW. Nishie
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorH. Shimizu
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Search for more papers by this authorS. Fukagawa
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorK. Urabe
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorM. Furue
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorT. Hashimoto
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan
Search for more papers by this authorS. Naito
Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Search for more papers by this authorConflicts of interest: none declared.
References
- 1 Birt AR, Hogg GR, Dubé WJ. Multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977; 113: 1674–7.
- 2 Toro JR, Glenn G, Duray P et al. Birt–Hogg–Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999; 135: 1195–202.
- 3 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 2002; 2: 157–64.
- 4 Kawasaki H, Sawamura D, Nakazawa H et al. Detection of 1733insC mutations in an Asian family with Birt–Hogg–Dubé syndrome. Br J Dermatol 2005; 152: 142–5.
- 5 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 2005; 76: 1023–33.
- 6 Toro JR, Wei M-H, 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 2008; 45: 321–31.
- 7 Pavlovich CP, Grubb RL 3rd, Hurley K et al. Evaluation and management of renal tumors in the Birt–Hogg–Dubé syndrome. J Urol 2005; 173: 1482–6.
- 8 Gunji Y, Akiyoshi T, Sato T et al. Mutations of the Birt Hogg Dubé gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007; 44: 588–93.
- 9 Leter EM, Koopmans AK, Gille JJ et al. Birt–Hogg–Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol 2008; 128: 45–9.
- 10 Van Steensel MA, Verstraeten VL, Frank J et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt–Hogg–Dubé patients. J Invest Dermatol 2007; 127: 588–93.
