Final published version
Research output: Contribution to Journal/Magazine › Review article › peer-review
Research output: Contribution to Journal/Magazine › Review article › peer-review
}
TY - JOUR
T1 - What's new in Birt-Hogg-Dubé syndrome?
AU - Claessens, Tijs
AU - Vernooij, Marigje
AU - Luijten, Monique
AU - Coull, Barry J.
AU - Van Steensel, Maurice Am
PY - 2012/12/1
Y1 - 2012/12/1
N2 - Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition, which predisposes to the development of benign hair follicle tumors called fibrofolliculomas, pneumothorax and kidney cancer. Lung and kidney cysts, respectively, are thought to cause the latter symptoms. The causative gene codes for a highly conserved protein called folliculin. Its function is still unknown, although recent data hint at a pervasive function in cellular signaling, affecting hypoxia responses and growth pathways. Because folliculin's role in the cell is unclear, BHD symptoms are not well understood. Treatment, therefore, is still empirical. In this review, the authors summarize the current state of knowledge and report some of the most recent findings. The authors discuss the implications for pathogenesis and treatment of the cutaneous manifestations in BHD.
AB - Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition, which predisposes to the development of benign hair follicle tumors called fibrofolliculomas, pneumothorax and kidney cancer. Lung and kidney cysts, respectively, are thought to cause the latter symptoms. The causative gene codes for a highly conserved protein called folliculin. Its function is still unknown, although recent data hint at a pervasive function in cellular signaling, affecting hypoxia responses and growth pathways. Because folliculin's role in the cell is unclear, BHD symptoms are not well understood. Treatment, therefore, is still empirical. In this review, the authors summarize the current state of knowledge and report some of the most recent findings. The authors discuss the implications for pathogenesis and treatment of the cutaneous manifestations in BHD.
KW - Birt-Hogg-Dubé
KW - cilia
KW - folliculin
KW - hair follicle tumor
KW - mTOR
KW - planar cell polarity
KW - rapamycin
KW - sebaceous gland
KW - wingless
U2 - 10.1586/edm.12.62
DO - 10.1586/edm.12.62
M3 - Review article
AN - SCOPUS:84870878504
VL - 7
SP - 521
EP - 528
JO - Expert Review of Dermatology
JF - Expert Review of Dermatology
SN - 1746-9872
IS - 6
ER -