title: Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family.
abstract: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis that presents as a clinical triad including follicular hamartomas, renal neoplasms and lung cysts associated with an increased risk of pneumothorax. FLCN gene defects have been identified as being responsible for BHDS. We herein report the case of a 67-year-old woman with the full-blown BHDS phenotype, characterized by skin lesions, multiple lung bullae and renal neoplasms. In her family history, one of the patient's sons exhibited a similar phenotype, without renal neoplasms. Due to the relatively late age of onset of renal neoplasms among variable BHDS phenotypes, follow-up imaging is recommended for the son who has not yet developed renal neoplasms.
authors.affiliation: Department of Nuclear Medicine, Pingjin Hospital, Logistics University of Chinese People's Armed Police Forces, China.
authors.forename: Zhichun
authors.initials: Z
authors.lastname: Lin
authors.forename: Kenan
authors.initials: K
authors.lastname: Gong
authors.forename: Bo
authors.initials: B
authors.lastname: Pang
authors.forename: Changqing
authors.initials: C
authors.lastname: Zeng
authors.forename: Dake
authors.initials: D
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype