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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Peutz Jeghers syndrome


Other Names for this Disease

  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.[1][2]

Children with Peutz-Jeghers syndrome often develop small, dark blue to dark brown spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus.[1][3] These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.[1]

People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.[1][2]

Last updated: 3/4/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal pigmentation of the oral mucosa 90%
Hypermelanotic macule 90%
Intestinal polyposis 90%
Lip hyperpigmentation 90%
Melanocytic nevus 90%
Abdominal pain 7.5%
Abnormality of nail color 7.5%
Biliary tract neoplasm 7.5%
Esophageal neoplasm 7.5%
Gastrointestinal hemorrhage 7.5%
Gastrointestinal infarctions 7.5%
Gynecomastia 7.5%
Intestinal obstruction 7.5%
Nasal polyposis 7.5%
Nausea and vomiting 7.5%
Neoplasm of the breast 7.5%
Neoplasm of the colon 7.5%
Neoplasm of the lung 7.5%
Neoplasm of the pancreas 7.5%
Neoplasm of the rectum 7.5%
Neoplasm of the small intestine 7.5%
Neoplasm of the stomach 7.5%
Ovarian neoplasm 7.5%
Renal neoplasm 7.5%
Testicular neoplasm 7.5%
Uterine neoplasm 7.5%
Abnormality of the mouth -
Abnormality of the ureter -
Autosomal dominant inheritance -
Biliary tract abnormality -
Breast carcinoma -
Clubbing of fingers -
Gastrointestinal carcinoma -
Hamartomatous polyps -
Intestinal bleeding -
Intussusception -
Iron deficiency anemia -
Ovarian cyst -
Precocious puberty with Sertoli cell tumor -
Rectal prolapse -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Peutz-Jeghers syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/ghr/disease/peutzjegherssyndrome. Accessed 9/3/2009.
  2. Stone C. Peutz-Jeghers syndrome. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/000244.htm. Accessed 9/3/3009.
  3. Amos CI, Frazier ML, McGarrity TJ, . Peutz-Jeghers Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pjs. Accessed 9/3/2009.


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.