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 Citations (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

Original language	English
Journal	Lancet Oncology
Volume	10
Issue number	12
Pages (from-to)	1199-1206
Number of pages	7
ISSN	1470-2045
Publication status	Published - 2009

Cite this

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title = "Birt-Hogg-Dube syndrome: diagnosis and management",

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",

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

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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 -