The literature data base has been updated with four papers:

Hoffman et al., 2013 present the case of a 59 year old woman who presented in clinic with flesh coloured papules on her face, which were originally diagnosed as angiofibromas. Further analysis of the patient’s medical history showed that in addition to the facial lesions she had a retinal tear caused by thin retinas, hypertension, arthritis, and skin tags on her thighs, arms and breasts. Further analysis of the patient’s family history revealed a daughter with a history of pneumothorax and a paternal cousin with RCC. Genetic testing confirmed a diagnosis of BHD, and cascade testing confirmed a further three family members with the familial FLCN mutation. A further seven relatives have clinical symptoms associated with BHD and genetic analysis of this family is on-going. This paper is available to download from the BHD Articles Library: Clinical section.

Brehmer et al., 2013 present the case of a 54 year old man who presented in clinic with facial skin lesions, which on physical examination were found to be distributed on the patient’s face, neck and upper trunk. Histological examination found the skin lesions to be fibrofolliculomas, and CT of the patient’s abdomen revealed the presence of multiple bilateral lung cysts forming sub-pleural lesions. There was no evidence of renal pathology. Genetic testing confirmed a diagnosis of BHD. Cascade testing was performed and the patient’s 85 year old father, who had had facial and retro-auricular papules since young adulthood, was found to carry the FLCN mutation.

Ryu et al., 2013 review the features and causes of diffuse cystic lung diseases, including Birt-Hogg-Dubé syndrome and Lymphangioleiomyomatosis (LAM).

Stamatakis et al., 2013 suggest diagnosis and management guidelines for BHD-associated kidney cancer. The authors recommend abdominal screening – preferably by MRI – every 36 months upon diagnosis if no kidney lesions are present. Once kidney tumours are identified, regular abdominal screening should be initiated, with the screening interval being determined by the number, location and growth rate of the tumours and general health of the patient. Once the largest tumour reaches 3 cm in size, nephron sparing surgery should be performed. In the authors’ experience, only in the rarest cases, usually when the renal tumours are of clear-cell histology, do renal tumours metastasize and require multiple treatments. In the majority of cases, patients will achieve a curative outcome and will only require one surgical intervention in their lifetime with this approach.

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