Birt-Hogg-Dubé syndrome: diagnosis and management.
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.
Menko
Fred H
FH
Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands. fh.menko@vumc.nl
van Steensel
Maurice A M
MA
Giraud
Sophie
S
Friis-Hansen
Lennart
L
Richard
Stéphane
S
Ungari
Silvana
S
Nordenskjöld
Magnus
M
Hansen
Thomas Vo
TV
Solly
John
J
Maher
Eamonn R
ER
D003560:Cysts / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011030:Pneumothorax / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins