title: The role of STK 11 gene testing in individuals with oral pigmentation.
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.
authors.affiliation: Royal Melbourne Hospital, Familial Cancer Centre, Melbourne, Victoria, Australia.
authors.forename: Bich-Thu
authors.initials: BT
authors.lastname: Duong
authors.affiliation: Royal Melbourne Hospital, Familial Cancer Centre, Melbourne, Victoria, Australia.|Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics; D008047:Lip Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis* / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013577:Syndrome
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: 
  
  STK 11
  
  ; Laugier-Hunziker syndrome; Peutz-Jeghers syndrome