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Familial Cancer

Erschienen in:

01.09.2013 | Original Article

Birt–Hogg–Dubé syndrome and the skin

verfasst von: Marigje Vernooij, Tijs Claessens, Monique Luijten, Maurice A. M. van Steensel, Barry J. Coull

Erschienen in: Familial Cancer | Ausgabe 3/2013

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Abstract

Birt-Hogg-Dubé syndrome (MIM #135150) is characterized by the development of benign skin tumours called fibrofolliculomas, pulmonary cysts that may lead to pneumothorax and a high risk of developing kidney cancer. BHD is caused by mutations affecting the highly conserved protein folliculin (FLCN), which probably has a role in intracellular transport. Most of the research effort directed towards BHD has focused on understanding how loss of FLCN causes kidney cancer. The cutaneous manifestations have received comparatively little attention. Although understandable, it is unfortunate, as the fibrofolliculomas are highly accessible and thus potentially are an excellent system for trying to understand the basic pathobiology of BHD. Also, patients can be very much burdened by the cosmetic consequences of having hundreds of facial skin tumours. Our lack of insight into what drives fibrofolliculoma growth translates into a very limited therapeutic arsenal. Thus, paying attention to fibrofolliculomas has both basic science and practical benefits. In this review, we will discuss the state of the art regarding our understanding of fibrofolliculoma pathogenesis and indicate future directions for research.

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Titel: Birt–Hogg–Dubé syndrome and the skin
verfasst von: Marigje Vernooij
Tijs Claessens
Monique Luijten
Maurice A. M. van Steensel
Barry J. Coull
Publikationsdatum: 01.09.2013
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 3/2013
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-013-9600-8

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