Birt-Hogg-Dube syndrome: diagnosis and management

F.H. Menko; M.A. van Steensel; S. Giraud; L. Friis-Hansen; S. Richard; S. Ungari; M. Nordenskjold; T.v.O. Hansen; J. Solly; E.R. Maher

Birt-Hogg-Dube syndrome: diagnosis and management

F.H. Menko, M.A. van Steensel, S. Giraud, L. Friis-Hansen, S. Richard, S. Ungari, M. Nordenskjold, T.v.O. Hansen, J. Solly, E.R. Maher

344 Citationer (Scopus)

Abstract

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

Originalsprog	Engelsk
Tidsskrift	Lancet Oncology
Vol/bind	10
Udgave nummer	12
Sider (fra-til)	1199-1206
Antal sider	7
ISSN	1470-2045
Status	Udgivet - 2009

Citationsformater

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abstract = "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",

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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

SN - 1470-2045

VL - 10

SP - 1199

EP - 1206

JO - The Lancet Oncology

JF - The Lancet Oncology

IS - 12

ER -