Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndrome

Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndrome Birt‐Hogg‐Dubé syndrome (BHD, also referred to as Hornstein‐Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Early symptoms include basal lung cysts, which can lead to recurrent spontaneous pneumothoraces. The majority of patients (> 90 %) develop multiple fibrofolliculomas, especially on the face and upper trunk, in the second or third decade of life. Given the 12–34 % lifetime risk of developing benign or malignant renal tumors, targeted screening programs are prognostically crucial. While these renal tumors may belong to various histological subtypes, common variants include multifocal – sometimes bilateral – chromophobe and oncocytic hybrid tumors. Early diagnosis and adequate long‐term care of families with BHD require interdisciplinary cooperation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal Der Deutschen Dermatologischen Gesellschaft Wiley

Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndrome

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.
ISSN
1610-0379
eISSN
1610-0387
D.O.I.
10.1111/ddg.13457
Publisher site
See Article on Publisher Site

Abstract

Birt‐Hogg‐Dubé syndrome (BHD, also referred to as Hornstein‐Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Early symptoms include basal lung cysts, which can lead to recurrent spontaneous pneumothoraces. The majority of patients (> 90 %) develop multiple fibrofolliculomas, especially on the face and upper trunk, in the second or third decade of life. Given the 12–34 % lifetime risk of developing benign or malignant renal tumors, targeted screening programs are prognostically crucial. While these renal tumors may belong to various histological subtypes, common variants include multifocal – sometimes bilateral – chromophobe and oncocytic hybrid tumors. Early diagnosis and adequate long‐term care of families with BHD require interdisciplinary cooperation.

Journal

Journal Der Deutschen Dermatologischen GesellschaftWiley

Published: Jan 1, 2018

References

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