Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Kong YL Author

Kong@gmail.com

Subjects of specialization
Folliculin interacting

Affiliation
Division of MedicalOncology, National Cancer Centre, Singapore

Biography

Mr. Kong YL, belongs to the department of Dermatology, interest in the field of  Birt-Hogg-Dubé syndrome; Folliculin interacting protein 1; Folliculin interacting protein 2; 5'-AMP-activated protein kinase; Tuberous sclerosis complex 1 gene;, from National Skin Centre, Singapore

Publications

Case Report Subscription

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

Author(s):

Kong YL, Oon HH, Choudhury Y, Tan MH and Ng SK

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.

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DOI: 10.4172/2327-5790.1000169

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