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

  title={Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dub{\'e} syndrome not linked to the FLCN locus.},
  author={Theo M. Starink and Arjan C. Houweling and Martijn B. A. van Doorn and Edward M. Leter and Elisabeth H. Jaspars and R Jeroen A van Moorselaar and Pieter E. Postmus and Paul Christiaan Johannesma and Jan Hein Tm van Waesberghe and Martijn H Ploeger and Marieke T Kramer and Johannes J. P. Gille and Quinten Waisfisz and Fred H. Menko},
  journal={Journal of the American Academy of Dermatology},
  volume={66 2},
BACKGROUND Previously, we proposed that familial multiple trichodiscomas (OMIM 190340) is distinct from Birt-Hogg-Dubé syndrome (BHD) (OMIM #135150). BHD is characterized by multiple fibrofolliculomas/trichodiscomas, lung cysts, pneumothorax, and renal cell cancer. Germline FLCN mutations can be detected in most but not all BHD families. OBJECTIVE We sought to evaluate familial multiple trichodiscomas at a clinical and genetic level. We now renamed this condition "familial multiple discoid… CONTINUE READING


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