MUCOCUTANEUS PIGMENTATION AND MULTIPLE GASTROINTESTINAL POLYPOSIS IN CHILDREN (PEUTZ JEGHERS SYNDROME) CASE REPORT
arifatun nisa,Bambang Soebagyo,Evi Rokhayati
Department of Child Health Sebelas Maret University Medical School Department of Child Health, Sebelas Maret University Medical SchoolDrMoewardi General Hospital, Surakarta, Central Java, Indonesia
Background : Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to mutation of the STK 11 gene characterized by benign hamartomatous polyps in gastrointestinal tract and mucocutaneus melanin pigmentation. Its prevalence is estimated from 1 in 8300 to 1 in 280 000 individuals. Patients with PJS are at increased risk for gastrointestinal and nongastrointestinal tumors.
Case Presentation Summary : 14 year-old girl came to our emergency room with history of prolonged abdominal pain, bloating and reccurent vomiting. Constipation and gastrointestinal bleeding were denied. None of her family has cancer. Physical examination revealed diffused, capricious abdominal pain without specific location and multiple hyperpigmented lesions over oral cavity, lips, palms and soles, no masses or organomegaly were observed. Laboratory findings were unremarkable. Abdominal endoscopy and biopsy revealed multiple polyposis in gaster and duodenum with erosive pangastritis. Hystological examination gastric mucosa and polyp showed mild dysplasia and hyperplasia of glandular epithelium that spread in submucosa and muscularis propia typical of Peutz-Jeghers syndrome. Colon in loop examination demonstrated multiple polyps. No signs of malignancy was observed.
Learning Points/Discussion : Peutz-Jeghers syndrome is a rare disease, asymptomatic mucocutaneus pigmentation often overlooked as insignificant findings. The prognosis depends on the severity of polyp complications and possible development of malignancies. Lifelong screening of malignancies and presymptomatic test for patient at risk is indispensable on a regular basis.