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Birt–Hogg–Dubé syndrome and the skin

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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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Acknowledgments

Our work is supported by grants from the Dutch Cancer Society KWF (KWF UM 2009–4352), the Association for International Cancer Research (AICR 11–0687) and the Annadal Foundation.

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Authors and Affiliations

  1. Department of Dermatology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands

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

  2. Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands

    Maurice A. M. van Steensel

Authors
  1. Marigje Vernooij
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  2. Tijs Claessens
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  3. Monique Luijten
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  4. Maurice A. M. van Steensel
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  5. Barry J. Coull
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Correspondence to Maurice A. M. van Steensel.

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Vernooij, M., Claessens, T., Luijten, M. et al. Birt–Hogg–Dubé syndrome and the skin. Familial Cancer 12, 381–385 (2013). https://doi.org/10.1007/s10689-013-9600-8

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