BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuPeutz-Jeghers syndromePJSPeutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk for developing certain cancers. Causes It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 50,000 to 200,000 people.PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can occur:Familial PJS is inherited in 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. Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article Spontaneous PJS is not inherited from a parent. The gene mutation occurs on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it. Symptoms Symptoms of PJS are:Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin Clubbed fingers or toes Clubbed fingers or toesClubbing is changes in the areas under and around the toenails and fingernails that occur with some disorders. The nails may also show changes....ImageRead Article Now Book Mark Article 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) Blood in the stoolBlack or tarry stools with a foul smell are a sign of a problem in the upper digestive tract. It most often indicates that there is bleeding in the ...ImageRead Article Now Book Mark Article Vomiting Exams and Tests 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.ColonoscopyA colonoscopy is an exam that views the inside of the colon (large intestine) and rectum, using a tool called a colonoscope. The colonoscope has a sm...ImageRead Article Now Book Mark Article Additional exams may show: Part of the intestine folded in on itself (intussusception) IntussusceptionIntussusception is the sliding of one part of the intestine into another. This article focuses on intussusception in children.ImageRead Article Now Book Mark Article Benign (noncancerous) tumors in the nose, airways, ureters, or bladderLaboratory tests may include:Complete blood count (CBC) -- may reveal anemia AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article Genetic testing Stool occult blood, to look for blood in stool Stool occult bloodThe stool guaiac test looks for hidden (occult) blood in a stool sample. It can find blood even if you cannot see it yourself. It is a common type ...ImageRead Article Now Book Mark Article Total serum iron and iron-binding capacity (TIBC) -- may indicate iron-deficiency anemiaTotal serum iron and iron-binding capac...Total iron binding capacity (TIBC) is a blood test to see if you have too much or too little iron in your blood. Iron moves through the blood attach...ImageRead Article Now Book Mark Article Treatment 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. Support Groups More information and support for people with PJS and their families can be found at:National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome Outlook (Prognosis) 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. Possible Complications Complications may include:Intussusception Polyps that lead to cancer Ovarian cysts Ovarian cystsAn ovarian cyst is a sac filled with fluid that forms on or inside an ovary. This article is about cysts that form during your monthly menstrual cycl...ImageRead Article Now Book Mark Article A type of ovarian tumors called sex cord tumors When to Contact a Medical Professional Contact your provider for an appointment if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception. Prevention Genetic counseling is recommended if you are planning to have children and have a family history of this condition.Open ReferencesReferencesGarber JJ, Chung DC. Colonic polyps and polyposis syndromes. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 126.McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266/. Updated September 2, 2021. Accessed April 18, 2024.Zahler SG, Kabbany MN, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 393.AllVideoImagesTogAnimation Related video goes here for no-HTML5 browsers - Animation Digestive system organs - illustration The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.Digestive system organsillustrationAnimation Related video goes here for no-HTML5 browsers - Animation Digestive system organs - illustration The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.Digestive system organsillustrationRelated Information Colorectal polyps(Condition)Autosomal dominant(Special Topic)Ovarian cysts(Condition) Review Date: 12/31/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. 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Peutz-Jeghers syndromePJSPeutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk for developing certain cancers. Causes It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 50,000 to 200,000 people.PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can occur:Familial PJS is inherited in 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. Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article Spontaneous PJS is not inherited from a parent. The gene mutation occurs on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it. Symptoms Symptoms of PJS are:Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin Clubbed fingers or toes Clubbed fingers or toesClubbing is changes in the areas under and around the toenails and fingernails that occur with some disorders. The nails may also show changes....ImageRead Article Now Book Mark Article 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) Blood in the stoolBlack or tarry stools with a foul smell are a sign of a problem in the upper digestive tract. It most often indicates that there is bleeding in the ...ImageRead Article Now Book Mark Article Vomiting Exams and Tests 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.ColonoscopyA colonoscopy is an exam that views the inside of the colon (large intestine) and rectum, using a tool called a colonoscope. The colonoscope has a sm...ImageRead Article Now Book Mark Article Additional exams may show: Part of the intestine folded in on itself (intussusception) IntussusceptionIntussusception is the sliding of one part of the intestine into another. This article focuses on intussusception in children.ImageRead Article Now Book Mark Article Benign (noncancerous) tumors in the nose, airways, ureters, or bladderLaboratory tests may include:Complete blood count (CBC) -- may reveal anemia AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article Genetic testing Stool occult blood, to look for blood in stool Stool occult bloodThe stool guaiac test looks for hidden (occult) blood in a stool sample. It can find blood even if you cannot see it yourself. It is a common type ...ImageRead Article Now Book Mark Article Total serum iron and iron-binding capacity (TIBC) -- may indicate iron-deficiency anemiaTotal serum iron and iron-binding capac...Total iron binding capacity (TIBC) is a blood test to see if you have too much or too little iron in your blood. Iron moves through the blood attach...ImageRead Article Now Book Mark Article Treatment 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. Support Groups More information and support for people with PJS and their families can be found at:National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome Outlook (Prognosis) 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. Possible Complications Complications may include:Intussusception Polyps that lead to cancer Ovarian cysts Ovarian cystsAn ovarian cyst is a sac filled with fluid that forms on or inside an ovary. This article is about cysts that form during your monthly menstrual cycl...ImageRead Article Now Book Mark Article A type of ovarian tumors called sex cord tumors When to Contact a Medical Professional Contact your provider for an appointment if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception. Prevention Genetic counseling is recommended if you are planning to have children and have a family history of this condition.Open ReferencesReferencesGarber JJ, Chung DC. Colonic polyps and polyposis syndromes. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 126.McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266/. Updated September 2, 2021. Accessed April 18, 2024.Zahler SG, Kabbany MN, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 393.