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Peutz-Jeghers Syndrome: Causes, Symptoms, Treatment, Prognosis

Peutz-Jeghers Syndrome is a genetic conditions that affects the gastrointestinal tract, along with the skin and mucus membranes. This article discusses about Peutz-Jeghers Syndrome in detail, with its causes, symptoms and treatment.

What is Peutz-Jeghers Syndrome?

Peutz-Jeghers Syndrome is an extremely rare genetic condition in which there is development of gastrointestinal polyps along with abnormal pigmentation of the skin and mucous membranes. The polyps formed in this condition are usually benign and are composed of cells found in the tissues but sometimes they can get malignant.[1] In fact, the risk of an individual developing cancer due to Peutz-Jeghers Syndrome is about 20% more than that of normal people.[2]

Causes Of Peutz-Jeghers Syndrome

The main causes of Peutz-Jeghers Syndrome are genetic mutations in a specific gene. This mutation may be inherited but may also occur as new mutations in individuals with no prior family history of this condition. The inherited form of Peutz-Jeghers Syndrome is an autosomal dominant trait. In this, children who inherit a defective gene from any parent can suffer from this condition.

It is caused due to mutations in gene Serine Threonine Kinase tumor-suppressor gene found on chromosome 19p13.3. This mutation can be inherited or may occur spontaneously. In inherited forms it is an autosomal dominant trait meaning that if the child gets one copy of the defective gene from either parent then there is more than 50% chance that the child will get Peutz-Jeghers Syndrome.[3]

Symptoms Of Peutz-Jeghers Syndrome

The symptoms of Peutz-Jeghers Syndrome are basically of two types. One is cutaneous and one is gastrointestinal.

Cutaneous or Skin Symptoms. The most noticeable symptoms of Peutz-Jeghers Syndrome include the presence of pigmented spots on the skin. These spots may be dark brown or blue in color and may range from 1 to 5 mm in size. They are mostly seen around the mouth, lips, gums, inner part of the mouth, eyes, hands, fingers, feet, toes, and the genital areas. These spots may become apparent by the time the child is 5 years of age and tend to go away by the time the child attains puberty.

Gastrointestinal Symptoms. The gastrointestinal symptom of Peutz-Jeghers Syndrome occurs much later in life and are rare in many cases. The main symptoms when they occur are the development of polyps. These polyps may cause intestinal bleeding and abdominal pain and in some cases they become malignant. Another common symptom for Peutz-Jeghers Syndrome is gastrointestinal obstruction, which needs immediate medical attention.[4]

Diagnosis Of Peutz-Jeghers Syndrome

Based on the clinical features at the time of presentation, a diagnosis of Peutz-Jeghers Syndrome may be suspected although there are other conditions which cause such symptoms as well, so these need to be ruled out. To rule out other conditions and confirm the diagnosis of Peutz-Jeghers Syndrome, certain tests may be ordered. These tests are:

  • A careful analysis of the pigmentary lesions
  • CBC to check the level of red blood cells as the polyps may be leading to bleeding which might result in anemia
  • An endoscopy to look for the presence of the polyps and to look at the location and extent of the polyps
  • A biopsy of the polyps can be done to check whether the polyps are benign or malignant

A combination of assessment of clinical presentation and onset of symptoms and the laboratory tests thus confirm the diagnosis of Peutz-Jeghers Syndrome.[5]

Treatment of Peutz-Jeghers Syndrome

There is no specific treatment of Peutz-Jeghers Syndrome and management is mainly aimed at prevention of complications that tend to arise due to this condition, mainly cancer and intestinal obstruction. It is estimated that individuals with Peutz-Jeghers Syndrome have about 90% of developing cancer later in life. The cancers may not only be of the gastrointestinal system but may also come from other sites including breast, ovary, testicle, pancreas, uterus, esophagus, and lung.

Some of the methods adopted for prevention of complications and as a part of symptomatic treatment of Peutz-Jeghers Syndrome include:

  • Diligent followup with CBC to check for any evidence of bleeding of the polyps
  • Annual health checkups with a comprehensive analysis of the breasts, abdomen, pelvis, and testes
  • Endoscopic polypectomy at regular intervals to make sure that the number of polyps do not increase and also frequent biopsy of the polyps to check whether they are benign or have become malignant.
  • Laparotomy and resection if needed for intestinal obstruction
  • Surgical excision of cancers if diagnosed[6]

Prognosis Of Peutz-Jeghers Syndrome

There is as present no cure for Peutz-Jeghers Syndrome but with symptomatic treatment the prognosis is good. Some people with this condition are at greater risk for developing cancer, hence increasing age, overall health condition and timely medical help play an important role in determining the prognosis of Peutz-Jeghers Syndrome.[7]


Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:June 8, 2022

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