PEUTZ JEGHERS SYNDROME : What is Peutz Jeghers syndrome? + Symptoms of peutz jeghers syndrome

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Today we will talk about another rare syndrome.

Before starting the video, keep in mind that the abbreviation PJS means
Peutz Jeghers syndrome.

Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition caused by mutations in the STK11/LKB1 gene.

It is affecting around 1/50,000 and 1/200,000 individuals.

Approximately 60-78% of individuals with PJS have an affected relative.

Symptoms usually appear during the first decade of life and begin with spots of dark skin freckling (melanocytic macules) around the mouth, eyes, nostrils, fingers as well as inside the mouth (oral mucosa) and around the 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.

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)

A clinical diagnosis of Peutz Jeghers syndrome can be made when any one of the following criteria is present:

Presence of at least two PJS polyps

Any number of PJS polyps and at least one close relative diagnosed with PJS

Characteristic dark pigmented spots (melanocytic macules) and at least one close relative diagnosed with PJS

Any number of PJS polyps and characteristic dark pigmented spots

Treatment

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.

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.

Polyps over 1 cm in size are removed with endoscopic techniques to avoid polyps-related complications such as bleeding and intussusception.

Related Disorders
Symptoms of the following disorders can be similar to those of Peutz-Jeghers syndrome. Comparisons may be useful for a differential diagnosis:

Juvenile polyposis syndrome is an autosomal dominant genetic disorder characterized by a specific type of hamartomatous polyp referred to as a juvenile polyp. Most polyps are benign but affected individuals are at an increased risk for colon and other cancers.

Serrated polyposis syndrome is an autosomal dominant genetic disorder characterized by a specific type of polyp referred to as a serrated (saw-tooth) polyp located in the colorectum. Most polyps are benign but serrated polyposis is associated with an increased personal and family history of colorectal cancer.

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. FAP is inherited in an autosomal dominant manner and caused by mutations in the APC gene.

Hereditary mixed polyposis syndrome is an autosomal dominant genetic disorder characterized by the development of multiple types of polyps (atypical juvenile polyps, hyperplastic polyps, sessile serrated adenomas, and adenomatous polyps) in the gastrointestinal tract. Affected individuals are at an increased risk for colorectal cancer.

The PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN tumor suppressor gene. These disorders are characterized by multiple hamartomas that can affect various areas of the body. Findings in PHTS also include increased risk for certain types of cancer and neurodevelopmental disorders.

Multiple endocrine neoplasia type 2 (MEN2) is a rare genetic disorder characterized by an increased risk of developing a specific form of thyroid cancer (medullary thyroid carcinoma) and benign tumors affecting additional glands of the endocrine system. Individuals with one particular type of the syndrome, called MEN2B, can develop benign growths arising from nerve cells called ganglion cells (ganglioneuromatosis).

Carney complex is a rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas.

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  Hereditary Mixed Polyposis Syndrome