A 21-year-old female patient with Peutz-Jeghers syndrome

Wojciechowska, Magdalena; Dryjański, T

doi:10.20452/pamw.498

Cited by 1 publication

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“…Negative family history in some patients indicates a possibility of de novo germline mutations. Approximately 30% of PJS cases occur without any previous family history, as a result of spontaneous genetic mutations (7). Individuals with PJS are at an increased risk for colorectal and small intestinal cancer, ductal, breast cancer, lung, thyroid, pancreatic, uterine, Sertoli cell testicular, and ovarian sex cord tumors.…”

Section: Discussionmentioning

confidence: 99%

Peutz-Jegher’s Syndrome – A Case Report / Peutz-Jegher’s sindrom - prikaz slučaja

Sbutega¹,

Popadić²,

Ivanovski³

et al. 2012

Serbian Journal of Dermatology and Venerology

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Peutz-Jegher's syndrome is a hereditary disorder characterized by melanocytic macules on the lips and buccal mucosa and multiple gastrointestinal hamartomatous polyps. It is caused by a mutation localized on chromosome 19p13.3. Skin and mucosal pigmentation may be present at birth and usually occur in early childhood, but occasionally may develop later. It is associated with an increased risk of malignancy for gastrointestinal carcinoma and also for breast, ovarian, testiscular, pancreatic and gallbladder cancer. We report a 12-year-old girl who presented with disseminated petty yellowish macules on the bridge of her nose, numerous brown to bluish black macules on her lips and buccal mucosa. Mucocutaneous pigmentation has been present from the age of five, with a negative family history. In our patient, esophageal endoscopy was normal, while the endoscopy of stomach and duodenum revealed multiple diminutive polyps. After clinical evaluation, there were no indications for therapy. Further follow up was suggested. Continuous surveillance is very important for patients with Peutz-Jegher's syndrome in order to reduce risks of cancer and prevent other morbidity and mortality.

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Section: Discussionmentioning

confidence: 99%