Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Ng SK Author

NgSK@gmail.com

Subjects of specialization
activated protein kinase

Affiliation
Division of MedicalOncology, National Cancer Centre, Singapore

Biography

Mr. Ng SK, 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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