Birt-Hogg-Dubé syndrome:  diagnosis and management

Fred H Menko; Maurice A M van Steensel; Sophie Giraud; Lennart Friis-Hansen; Stéphane Richard; Silvana Ungari; Magnus Nordenskjöld; Thomas Vo Hansen; John Solly; Eamonn R Maher

doi:10.1016/S1470-2045(09)70188-3

Birt-Hogg-Dubé syndrome: diagnosis and management

Fred H Menko, Maurice A M van Steensel, Sophie Giraud, Lennart Friis-Hansen, Stéphane Richard, Silvana Ungari, Magnus Nordenskjöld, Thomas Vo Hansen, John Solly, Eamonn R Maher

Research output: Contribution to journal › Review article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1199-206
Number of pages	8
Journal	The Lancet Oncology
Volume	10
Issue number	12
DOIs	https://doi.org/10.1016/S1470-2045(09)70188-3
Publication status	Published - 1 Dec 2009

Keywords

Cysts/diagnosis
Genetic Testing
Germ-Line Mutation
Humans
Kidney Neoplasms/diagnosis
Lung Diseases/diagnosis
Pneumothorax/diagnosis
Proto-Oncogene Proteins/genetics
Skin Diseases/diagnosis
Syndrome
Tumor Suppressor Proteins/genetics

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10.1016/S1470-2045(09)70188-3

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@article{3185e5ea743f47aa9c6d13fbaf7922b5,

title = "Birt-Hogg-Dub{\'e} syndrome: diagnosis and management",

abstract = "Birt-Hogg-Dub{\'e} 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.",

keywords = "Cysts/diagnosis, Genetic Testing, Germ-Line Mutation, Humans, Kidney Neoplasms/diagnosis, Lung Diseases/diagnosis, Pneumothorax/diagnosis, Proto-Oncogene Proteins/genetics, Skin Diseases/diagnosis, Syndrome, Tumor Suppressor Proteins/genetics",

author = "Menko, {Fred H} and {van Steensel}, {Maurice A M} and Sophie Giraud and Lennart Friis-Hansen and St{\'e}phane Richard and Silvana Ungari and Magnus Nordenskj{\"o}ld and Hansen, {Thomas Vo} and John Solly and Maher, {Eamonn R}",

year = "2009",

month = dec,

day = "1",

doi = "10.1016/S1470-2045(09)70188-3",

language = "English",

volume = "10",

pages = "1199--206",

journal = "The Lancet Oncology",

issn = "1470-2045",

publisher = "Lancet Publishing Group",

number = "12",

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TY - JOUR

T1 - Birt-Hogg-Dubé syndrome

T2 - diagnosis and management

AU - Menko, Fred H

AU - van Steensel, Maurice A M

AU - Giraud, Sophie

AU - Friis-Hansen, Lennart

AU - Richard, Stéphane

AU - Ungari, Silvana

AU - Nordenskjöld, Magnus

AU - Hansen, Thomas Vo

AU - Solly, John

AU - Maher, Eamonn R

PY - 2009/12/1

Y1 - 2009/12/1

N2 - 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.

AB - 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.

KW - Cysts/diagnosis

KW - Genetic Testing

KW - Germ-Line Mutation

KW - Humans

KW - Kidney Neoplasms/diagnosis

KW - Lung Diseases/diagnosis

KW - Pneumothorax/diagnosis

KW - Proto-Oncogene Proteins/genetics

KW - Skin Diseases/diagnosis

KW - Syndrome

KW - Tumor Suppressor Proteins/genetics

U2 - 10.1016/S1470-2045(09)70188-3

DO - 10.1016/S1470-2045(09)70188-3

M3 - Review article

C2 - 19959076

SN - 1470-2045

VL - 10

SP - 1199

EP - 1206

JO - The Lancet Oncology

JF - The Lancet Oncology

IS - 12

ER -

Birt-Hogg-Dubé syndrome: diagnosis and management

Abstract

Keywords

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