Web Resources for Birt-Hogg-Dube syndrome
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Birt-Hogg- Dubé syndrome (BHDS)
- Hair follicle hamartomas
- Perifollicular fibromas
- Kidney tumours - in between 5 to 35% depending on series, usually the chromophobe variant of renal cell carcinoma, although hybrid tumours with oncocytoma are described.
- Spontaneous pneumothorax - 50-fold increased risk
- Lung cysts - about 80%
- ↑ Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Archives of dermatology. 1977 Dec; 113(12):1674-7.
- ↑ Toro JR, Wei MH, Glenn G, Weinreich M, Toure O, Vocke C, Turner ML, Merino M, Pinto P, Steinberg S, Schmidt L, Linehan WM. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube Syndrome: A new series of 50 families and a review of published reports. Journal of medical genetics. 2008 Jan 30.(Epub ahead of print) (Link to article – subscription may be required.)