[New mutation in the Birt Hogg Dube gene]

Actas Dermosifiliogr. 2010 Sep;101(7):637-40.
[Article in Spanish]

Abstract

Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Birt-Hogg-Dube Syndrome / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree