BHD Literature Database Updated

The literature data base has been updated with two papers:

Wee et al., describes the case of two siblings with multiple papules of the face and pinnae that developed in childhood. Histological analysis revealed the lesions to be discoid fibromas, with some exhibiting a keloid-like pattern. Neither patient harboured a FLCN mutation, but their negative family history suggests either a recessive mode of inheritance or that one of their parents carries a germline autosomal domainant mutation. Surgical treatment proved unsatisfactory, but lesions showed improvement (reduced size and redness) after an 8 week course of daily treatment with topical rapamycin.

Lopez reviews the genetics and pathology of clear cell renal carcinomas, including those found in BHD, VHL, HLRCC and TSC.

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

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