Clinical presentation
PJS is believed to have incomplete penetrance with variable expression. Approximately 88% of patients with PJS will develop polyps. They most commonly occur in the small bowel (64%), colon (53%), stomach(49%), and rectum(32%). Polyps have also occurred in atypical locations like in the renal pelvis, urinary bladder, lungs, and nares. Symptoms usually begin in the second or third decade of life. Individuals with gastrointestinal polyposis may present with obstruction, abdominal pain, gastrointestinal bleeding, or recurrent small bowel intussusception 47 (up to 47% required operation 48 ).
The characteristic mucocutaneous pigmentation is present in about 95% of patients with PJS. It occurs most commonly on the vermillion border of the lips (94%), hands (74%), buccal mucosa (66%), and feet (62%), but has also been reported in the periorbital, perianal, and genital areas. These lesions present usually as small 1 to 5 mm, dark brown or blue-brown macules in infancy and may fade in late adolescence.
Patients with PJS are at an increased risk of malignancy with a 93% lifetime risk of developing cancer 49 . The cancers with the most significantly increased risk are breast (54%), colon (39%), pancreas (36%), stomach (29%) and rare cancers in the genital tract. Among the genital malignancies, sex-cord tumors with annular tubules of the ovary and adenoma malignum of the cervix, a rare aggressive adenocarcinoma of the cervix, have been reported in women. Men are at increased risk for Sertoli-cell type testicular tumors.
According to the World Health Organization, a clinical diagnosis of PJS is made if one of the following criteria is present: (1) three or more pathologically confirmed Peutz-Jeghers polyps, or (...
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...stic polyps in addition to hamartomas, ganglioneuromas, adenomas and inflammatory polyps. These various types of polyps were also identified in the esophagus, stomach and duodenum of PTEN mutation carrier patients during upper endoscopy 54 .
Fibrocystic disease of the breasts, uterine fibroids, and other genitourinary malformations are also common features of PHTS. Multinodular goiter and thyroid nodules are part of the disease spectrum. Virtually, all patients with PHTS have the mucocutaneous manifestations which include trichilemmomas, papillomatous papules, lipomas, and acral keratosis. Men can have freckling on the glans penis. An estimated 93% of PHTS patients will have polyps, including hamartomas, adenomas, serrated lesions, inflammatory polyps, and lipomas54 .Additionally, Lhermitte-Duclos, vascular anomalies/hemagiomas, and Autism/development delay have all
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