Peutz-Jeghers syndrome affects both males and females. The characteristic, or pathognomonic, features of PJS are unusual skin freckling and multiple polyps of the small intestine. The skin freckles, which are bluish to brown to black in color, can be found on the lips, inside the mouth, around the eyes, on the hands and feet, and on the genitals. The freckles are called benign hyperpigmented macules and do not become cancerous. The polyps in PJS are called hamartomatous polyps, and are found in the small intestine, small bowel, stomach, colon, and sometimes in the nose or bladder. Hamartomatous polyps are usually benign (not cancerous), but occasionally become malignant (cancerous). Dozens to thousands of hamartomatous polyps may develop. A person with PJS with benign hamartomatous polyps can have abdominal pain, blood in the stool, or complications such as colon obstruction or intussusception (a condition in which one portion of the intestine telescopes into another). Surgery may be required to remove the affected part of the colon. A person with PJS is at increased risk for cancer of the colon, small intestine, stomach and pancreas. Women with PJS are also at increased risk for breast and cervical cancer, and a specific type of benign ovarian tumor called SCTAT (sex cord tumors with annular tubules). Men with PJS are also at increased risk for benign testicular tumors.
Laura L. Stein M.S., C.G.C., The Gale Group Inc., Gale, Detroit,