Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

@article{MotaBurgos2013BirtHoggDubSI,
  title={Birt-Hogg-Dub{\'e} syndrome in a patient with melanoma and a novel mutation in the FCLN gene.},
  author={Ana Mota-Burgos and Enrique Herrera Acosta and F. V{\'i}lchez M{\'a}rquez and Matilde Mendiola and Enrique Herrera-Ceballos},
  journal={International journal of dermatology},
  year={2013},
  volume={52 3},
  pages={
          323-6
        }
}
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by the presence of three skin tumors (fibrofolliculomas, trichodiscomas, and acrochordons), together with an increased risk for other tumors, especially renal tumors, caused by a mutation in folliculin, an oncogene suppressor protein. The association of this syndrome with melanoma is very unusual. We report the case of a 54-year-old man with a history of melanoma who had multiple white facial papules. His son… CONTINUE READING