Three new BHD case studies

Dow et al. (2016) present the case of a BHD patient with a renal angiomyolipoma, a neoplastic lesion usually associated with TSC. There is both clinical and molecular overlap between BHD and TSC. In addition, both FLCN and TS proteins appear to play important roles in the mTOR pathway. This case further illustrates the overlap between BHD and TS and how genetic testing is important to establish a firm diagnosis.

Burkett et al. (2016) present the case of a 46-year-old man with spontaneous pneumothorax secondary to bullous emphysema caused by a novel mutation (c.1219delA) in the folliculin (FLCN) gene.

Dardour et al. (2016) present the case of 57-year-old man with Smith-Magenis syndrome (SMS), a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. The patient presented bilateral renal tumors most likely related to haploinsufficiency of FLCN gene, located in the deleted region. Mutations of FLCN cause BHD syndrome, characterized by pulmonary cysts, skin and renal tumors. This case suggests that patients with SMS should also be checked for possible manifestations of BHD.

Two of these studies are freely available to download in the BHD Article Library: Clinical Research.

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