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

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Case Report, J Genet Disor Genet Rep Vol: 7 Issue: 1

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

Kong YL1*, Oon HH2, Choudhury Y3,4 Tan MH2-4 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
+(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.

Keywords: Birt-Hogg-Dubé syndrome; Folliculin interacting protein 1; Folliculin interacting protein 2; 5'-AMP-activated protein kinase; Tuberous sclerosis complex 1 gene; Tuberous sclerosis complex 2 gene; Mechanistic target of rapamycin complex 1

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