BHDSyndrome.org August Updates

There have been a few changes to BHDSyndrome.org in the past few weeks. Firstly, the Information Pamphlets are now available for download. Thank you very much to all who participated in the pamphlet survey. Many supportive responses were received from families, doctors, genetic counsellors and friends of people with BHD, showing the need for a helpful way of telling others about BHD.

There are six different Information Pamphlets. Diagnosis Information describes how to obtain a definitive diagnosis for BHD and why it might be important to do so. Skin Symptoms and Treatment, Lung Symptoms and Treatment, Kidney Symptoms and Kidney Treatment offer brief overviews of what these BHD symptoms are and options for treatment. The Clinical Introduction pamphlet is a one-page summary of BHD pathology and is written to give health professionals an understanding of BHD basics. We hope you will find the pamphlets useful to share information about BHD.

Acting on feedback to the pamphlet survey, more fibrofolliculoma photos are available. Several pages (Skin Symptoms, Fibrofolliculomas, Diagnosis of Skin Symptoms, Treatment for Skin Lesions) now show a variety of examples of fibrofolliculomas. The majority of these photos have kindly been provided by Dr Derek Lim and the authors of Menko et al. (2009). A sincere thank you as well to the individuals who agreed to share these photos.

Would you be interested in learning more about Dr Derek Lim and his work with BHD patients? Are you curious about the latest BHD research and would like to know what was discussed at the Third BHD Symposium? If so, please visit the Video Interviews section. Several BHD researchers generously gave of their time during the Symposium to participate in this feature and we are excited to share these new interviews. Take a look at the videos and hear from a clinical geneticist, learn why rare disease research is crucial to our understanding of health, and discover more about the roles of basic and clinical research.

Remember to check BHDSyndrome.org on Twitter, register for BHD Worldwide and contribute to the Forum!

  • Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncology 10 (12):1199-206. PMID: 19959076.
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.

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