Peutz–Jeghers syndrome: a multidisciplinary approach to diagnosis based on a clinical case

Abstract

Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disease (genodermatosis) caused by germline mutations in STK11 gene. The article describes an algorithm for PJS diagnostics in children using a clinical case as an example. A 5-year-old female patient without any family history underwent a genetic testing because of the buccal mucosa pigmentation, which is the one of the major signs of PJS. De novo mutation in the STK11 gene was found (c.543C> G, p.N181K). Taking into account the high risk of polyposis in PJS, an endoscopic examination of the gastrointestinal tract was performed. Gastric polyps were found, including multiple hamartoma polyps, which fully met the clinical criteria of the disease. The reported case shows an importance of multidisciplinary approach to PJS management. Multidisciplinary team should include dermatologist, clinical geneticist, endoscopist, and pediatric oncologist due to the high risk of developing malignancies as the child grows older.