TY - JOUR
T1 - Birt-Hogg-Dube syndrome: diagnosis and management
AU - Menko, FH
AU - van Steensel, MAM
AU - Giraud, S
AU - Friis-Hansen, L
AU - Richard, S
AU - Ungari, S
AU - Nordenskjold, M
AU - Hansen, TVO
AU - Solly, J
AU - Maher, Eamonn
PY - 2009/12/1
Y1 - 2009/12/1
N2 - Birt-Hogg-Dube 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.
AB - Birt-Hogg-Dube 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.
UR - https://www.scopus.com/pages/publications/70849136880
U2 - 10.1016/S1470-2045(09)70188-3
DO - 10.1016/S1470-2045(09)70188-3
M3 - Review article
C2 - 19959076
VL - 10
SP - 1199
EP - 1206
JO - The Lancet Oncology
JF - The Lancet Oncology
IS - 12
ER -
