The role of STK 11 gene testing in individuals with oral pigmentation

The Australasian Journal of Dermatology
Bich-Thu Duong, Ingrid Winship

Abstract

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant condition characterised by mucocutaneous pigmented lesions, gastrointestinal polyposis and a significant risk of cancer. Laugier-Hunziker syndrome (LHS) is a benign condition with similar dermatological features, but with no systemic complications. STK 11 gene testing allows clinicians to differentiate between these two disorders. This case report compares the dermatological similarities in four individuals with PJS or LHS and illustrates the potential benefit of genetic testing. There is > 90% likelihood of identifying a mutation in STK 11 if a patient fulfils the diagnostic criteria for PJS. Lifelong risk management is advised for these individuals with confirmed PJS. Diagnostic confirmation is important to provide rational management, in particular, endoscopic cancer surveillance, and psychological support. STK 11 testing can confirm those at risk of PJS, who require lifelong surveillance, and possibly release those with a simple dermatosis, such as LHS, from invasive and thus potentially harmful surveillance.

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Citations

Feb 17, 2018·Head and Neck Pathology·Hattan ZakiAlfredo Aguirre
Oct 30, 2020·International Journal of Dermatology·Patrycja Sputa-GrzegrzolkaPiotr Dziegiel
Jan 31, 2021·Journal of Clinical Medicine·Anja WagnerGabriela Möslein
Oct 16, 2021·Experimental and Therapeutic Medicine·Florica SandruMara Carsote

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