Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

Reach Us +1 850 754 6199
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

Share This Page

Media Partners

Associations