BHD Literature Database Updated

The literature database has been updated with five papers.

Case studies:

Benusiglio et al. describe the case of a BHD patient with clear cell thyroid carcinoma. Loss of heterozygosity was seen in the tumour with respect to FLCN. However, other genetic causes of thyroid carcinoma were not investigated in this tumour, meaning that it is unclear whether the tumour arose by coincidence or was caused by BHD Syndrome. This paper is freely available to download from the BHD Articles Library: Clinical Research.

Pritchard et al. describe the case of a 51 year old Hispanic woman with a medical history of fibrofolliculoma and trichodiscoma, which were treated successfully with low setting hyfrecation. There has been no recurrence of skin lesions at two years following treatment. This paper is freely available to download from the BHD Articles Library: Clinical Research.

De Keyser et al. report the case of a BHD patient who had a medical history of vestibular schwannoma in adolescence.

Ardilouze et al. describe the case of a 58 year old French woman who presented with spontaneous pneumothorax, who had a medical and family history of skin lesions. CT scans revealed the presence of multiple lung cysts and genetic testing confirmed a diagnosis of BHD syndrome. CT scans also revealed both of the proband’s adult children also had multiple lung cysts.

Clinical reviews:

Boer-Auer reviews the different types of skin lesions caused by sebaceous tumours, including those cause by BHD syndrome. [Article in German]

To find out more, the latest version of the database is available to download here.

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