Genetic disease with benign hamartomatous polyps in GI tract and hyperpigmented macules on lips and oral mucosa (Melanosis).Encyclopedia Entry for Peutz-Jeghers Syndrome :Peutz-Jeghers syndrome. It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births. PJS is caused by a mutation in a gene called STK11/LKB1. There are two types of PJS: Familial PJS is inherited through families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease. Spontaneous PJS is not passed down through families. The gene mutation occurs on its own.Symptoms of PJS are: Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin Clubbed fingers or toes Cramping pain in the belly area Dark freckles on and around the lips of a child Blood in the stool that can be seen with the naked eye (sometimes) Vomiting.The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in two ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine. Additional exams may show: Part of the intestine folded in on itself ( intussusception ) Benign (noncancerous) tumors in the ear Laboratory tests may include: Complete blood count -- may reveal anemia Genetic testing Stool guaiac , to look for blood in stool Total iron-binding capacity (TIBC) -- may be linked with iron-deficiency anemia.Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss. People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.The following resources can provide more information on PJS: National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome.There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.Complications may include: Intussusception Polyps that lead to cancer Ovarian cysts A type of ovarian tumors called sex cord tumors.Call for an appointment with your provider if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.Genetic counseling is recommended if you are planning to have children and have a family history of this condition.PJS.Digestive system organs Digestive system organs.Donoghue LJ. Tumors of the digestive tract.