Whitworth et al. (2016) present the case of a 58-year-old woman with a variety of disease manifestations including an oncocytoma in the submandibular gland, presence of multiple hemangiomas/cavernous malformations in the cerebrum and cerebellum, pulmonary bullae, a spontaneous pneumothorax episode, a goitre and facial rash.
From the medical history and clinical manifestations, two rare diseases were considered: BHD and hereditary cavernous cerebral malformations (CCM). Genetic testing of the relevant genes revealed mutations in the FLCN and CCM2 genes. Follow-up scan of the kidneys showed multiple small cysts and pulmonary bullae.
The authors suggest that when potentially novel clinical features are manifested, co-existing conditions should be considered and extensive genetic testing should be performed. The increased use of next generation sequencing in diagnosis is likely to reveal more cases such as this.
This case study is freely available to download in the BHD Article Library: Clinical Research.