Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

A case of Tuberous Sclerosis Complex Masquerading as Birt-Hogg-Dubé Syndrome

Tuberous sclerosis complex (TSC) and Birt-Hogg-Dubé syndrome (BHDS) act via the mammalian target of rapamycin (mTOR) pathway, resulting in overlapping clinical presentations. We report a patient who presented with features suggestive of BHDS: multiple fibrofolliculomas, a history of spontaneous pneumothorax and a positive family history of a renal condition. Subsequent genetic testing confirmed a Tuberous sclerosis complex 2 (TSC2) gene mutation, corresponding to a diagnosis of TSC. This case highlights how closely intertwined both conditions are, and also confirms that fibrofolliculomas are a feature of TSC.

Special Features

Full Text

View

Track Your Manuscript

Media Partners

GET THE APP