Birt-Hogg-Dubé syndrom

Anders Aagaard Rehfeld; Maurice A M van Steensel; Lennart Friis-Hansen

Birt-Hogg-Dubé syndrom

Anders Aagaard Rehfeld, Maurice A M van Steensel, Lennart Friis-Hansen

Department of Clinical Medicine

Abstract

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

Translated title of the contribution	Birt-Hogg-Dubé syndrom
Original language	English
Journal	Ugeskrift for Laeger
Volume	172
Issue number	29
Pages (from-to)	2085-90
Number of pages	6
ISSN	0041-5782
Publication status	Published - 19 Jul 2010

Cite this

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title = "Birt-Hogg-Dub{\'e} syndrom",

abstract = "Birt-Hogg-Dub{\'e} (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.",

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year = "2010",

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language = "English",

volume = "172",

pages = "2085--90",

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TY - JOUR

T1 - Birt-Hogg-Dubé syndrom

AU - Rehfeld, Anders Aagaard

AU - van Steensel, Maurice A M

AU - Friis-Hansen, Lennart

PY - 2010/7/19

Y1 - 2010/7/19

N2 - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

AB - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

M3 - Journal article

SN - 0041-5782

VL - 172

SP - 2085

EP - 2090

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 29

ER -

Birt-Hogg-Dubé syndrom

Abstract

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