Birt-Hogg-Dube syndrome: diagnosis and management
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
Birt-Hogg-Dube syndrome: diagnosis and management. / Menko, F.H.; Steensel, M.A. van; Giraud, S.; Friis-Hansen, L.; Richard, S.; Ungari, S.; Nordenskjold, M.; Hansen, T.v.O.; Solly, J.; Maher, E.R.
In: Lancet Oncology, Vol. 10, No. 12, 2009, p. 1199-1206.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Birt-Hogg-Dube syndrome: diagnosis and management
AU - Menko, F.H.
AU - Steensel, M.A. van
AU - Giraud, S.
AU - Friis-Hansen, L.
AU - Richard, S.
AU - Ungari, S.
AU - Nordenskjold, M.
AU - Hansen, T.v.O.
AU - Solly, J.
AU - Maher, E.R.
PY - 2009
Y1 - 2009
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 Udgivelsesdato: 2009/12
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 Udgivelsesdato: 2009/12
M3 - Journal article
VL - 10
SP - 1199
EP - 1206
JO - The Lancet Oncology
JF - The Lancet Oncology
SN - 1470-2045
IS - 12
ER -
ID: 19797720