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

Kong YL^1*, Oon HH², Choudhury Y^3,4 Tan MH^2-4 and Ng SK¹

¹Department of Dermatology, National Skin Centre, Singapore

²Division of MedicalOncology, National Cancer Centre, Singapore

³Institute of Bioengineering and Nanotechnology, Singapore

⁴Lucence Diagnostics Pte Ltd, Republic of Singapore

*Corresponding Author : Kong YL
Department of Dermatology, National Skin Centre, Singapore-308205, Singapore
Tel: +(65) 91892550
E-mail: [email protected]

Received: April 03, 2018 Accepted: April 30, 2018 Published: May 07, 2018

Citation: Kong YL, Oon HH, Choudhury Y, Tan MH, Ng SK (2018) A Case of Tuberous Sclerosis Complex Masquerading as Birt-Hogg-Dube Syndrome. J Genet Disor Genet Rep 7:1. doi: 10.4172/2327-5790.1000169

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.