About jegher's syndrome

What is jegher's syndrome?

Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers.

What are the symptoms for jegher's syndrome?

PJS is characterized by the growth of multiple benign polyps called hamartomas on the mucous lining of the gastrointestinal system and spots of dark blue to dark brown skin freckling (melanocytic macules) around the mouth, eyes, nostrils, fingers, oral mucosa and anus (perianal). These melanocytic macules can appear as early as the first year of life and are present in most affected children under five years of age. They tend to fade away with age and might completely disappear in puberty or adulthood, although they tend to persist in the oral mucosa. Polyps also begin to grow within the first years of life, but associated symptoms typically arise between 10 to 30 years of age. Around half of patients with PJS have to undergo surgery by age 18 because of polyps-related complication. Polyps most often tend to develop in the small intestine (in the jejunum, specifically) but can also arise in the stomach and large intestine. Rarely, polyps can grow outside the gastrointestinal tract and affect the ureters, bladder, lungs, bronchi, and gallbladder. Gastrointestinal polyps can cause Abdominal pain, Vomiting, Diarrhea, intestinal obstruction and Rectal bleeding, which can lead to Anemia. They can also provoke folding of the intestine into itself (intussusception), which can lead to severe Abdominal pain and emergency surgery.

Individuals with Peutz Jeghers syndrome are at a highly increased risk of developing gastrointestinal and other cancers including breast, cervical, uterine, pancreas, and lung. The lifetime risk of developing cancer in affected individuals can be as high as 93%. Individuals that develop cancer are usually affected around their fifth decade of life (age 40-49). Affected females have an increased risk for a benign ovarian tumor called SCTAT (sex cord tumors with annular tumors) for which symptoms may include irregular or heavy periods or early puberty. Usually before age 20, affected males can develop a tumor in the testes, called Sertoli cells carcinoma that secretes estrogen and can lead to breast development (gynecomastia).

What are the causes for jegher's syndrome?

Peutz Jeghers syndrome is an autosomal dominant genetic condition caused by mutations in the STK11/LKB1 gene. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (de novo) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Approximately 60-78% of individuals with PJS have an affected relative. Around 80-94% of PJS patients have an identified mutation in the STK11 gene, which means that other genes are possibly involved in the disease. More than 200 disease-causing (pathogenic) mutations have been reported and the penetrance of these mutations is thought to be 100%, meaning that an individual carrying a pathogenic mutation will necessarily develop the disease.

The STK11 gene produces a protein that is involved in the regulation of cell division and programmed cell death (apoptosis). It also interacts with p53, a major tumor suppression protein. Pathogenic mutations in STK11 lead to either cessation or dysfunction of protein production by the gene and uncontrolled cell growth, which can in turn lead to the development of benign polyps (hamartomas) and cancer.

The dark pigmented spots (melanocytic macules) are thought to be caused by inflammation and blockage of melanin migration from cells where it is produced (melanocytes) to cells forming the outermost layer of the skin (keratinocytes).

What are the treatments for jegher's syndrome?

A consultation with a clinical geneticist or genetic counselor should be offered. As there is no cure for Peutz Jeghers syndrome, treatment is mostly focused on surveillance and control of symptoms. After initial diagnosis, it is recommended that individuals older than 8 years or having symptoms undergo endoscopic and small bowel examination. The latter can be done with magnetic resonance imaging of the intestines (magnetic resonance enterography, MRE) or by swallowing a capsule that records internal images from inside the gastrointestinal tract (video capsule endoscopy, VCE). Gynecologic and breast examination are also recommended for women older than 18 years. Testicular examination is recommended for men.

Following initial workup after the diagnosis, endoscopy, colonoscopy, and small bowel examination should be performed every 2-3 years to detect polyps and potential tumors. An annual mammogram is recommended for women. Testicular ultrasound can be done every two years for men.

As PJS increases the risk of breast, uterine, and ovarian cancer, it is possible for affected women to undergo preventive mastectomy, hysterectomy or salpingo-oophorectomy (surgical removal of the breasts, uterus, and fallopian tubes and ovaries, respectively).

Polyps over 1 cm in size are removed with endoscopic techniques to avoid polyps-related complications such as bleeding and intussusception. These complications might require surgical interventions to be corrected. If a patient undergoes surgery, endoscopic removal of polyps (polypectomy) is performed at the same time as surgery to reduce the risk of recurrence of complications and surgery.

In cases where dark pigmented spots (melanocytic macules) have a greatly negative psychological impact on affected individuals, they can be partially removed with laser treatment.

What are the risk factors for jegher's syndrome?

Jegher's syndrome is caused by the autosomal dominant disorder which results in the numerous noncancerous benign polyps in the digestive system. These noncancerous growths are called hamartomatous polyps. There is an increased risk of cancer associated with this disease.

Risk factors

  • This condition is commonly seen in children.
  • They tend to develop small dark-colored spots on the mouth orifice and lips.
  • The lesions can also be seen in the oral mucosa, eyes, nostrils, and around the anus.
  • This condition usually gets fades in adulthood.
  • The adolescent period is a high-risk period for this disease, due to the hormonal changes, it gets more severe.
  • Persons who are presenting with other types of gastrointestinal tract issues have a high risk.
  • People in tropical regions have a high risk of the severity of this particular disease.

Hamartomous polyps in oral cavity and nostrils
Constant surveilance and test,Symptomatic treatment
High risk of cancerous conditions

Is there a cure/medications for jegher's syndrome?

Jegher's syndrome is caused due to the genetic mutation caused in the SK11 gene. This condition presents as the number of non-cancerous growths and polyps in the gastrointestinal tract and other mucosae of the body. These polyps are usually referred to as hamartomatous polyps.
The patients are usually children with numerous and discolored spots in the oral and anal mucosa.


  • Currently, there is no cure for jegher's syndrome.
  • Patients may undergo lifelong surveillance of organs to monitor for cancer and prevent secondary problems from the polyps.
  • This depends on polyps being removed before they are large enough to develop into cancer.
  • Polyps can be easily removed during a colonoscopy.
  • As per studies patients may not need emergency small intestinal surgery if they are under close surveillance and do not develop cancer.
  • Polyps present in the small bowel further downstream can be seen through a balloon or double balloon enteroscopy and can be removed.
  • However, if the polyps cannot be reached, and there are symptoms of a greater issue, then surgery may be performed to remove it

Hamartomous polyps in oral cavity and nostrils
Constant surveilance and test,Symptomatic treatment
High risk of cancerous conditions

Video related to jegher's syndrome