How is Peutz Jeghers Syndrome diagnosed?

Children are tested for Peutz-Jeghers syndrome (PJS) by performing an upper gastroenterology (GI) endoscopy and a colonoscopy. These procedures allow the doctor to look inside the esophagus, stomach, duodenum and large intestine using separate long, flexible tubes with cameras on the end.

What is Laugier Hunziker syndrome?

Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS.

Is there a cure for Peutz Jeghers syndrome?

Currently, there is no cure for Peutz-Jeghers syndrome (PJS). Patients undergo lifelong surveillance of organs to monitor for cancer and prevent secondary problems from the polyps.

Is Peutz-Jeghers Syndrome life threatening?

Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps.

Is Peutz-Jeghers syndrome premalignant?

The polyps are not premalignant, but a definite association exists between Peutz-Jeghers syndrome and gastrointestinal carcinoma. Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.

How do you treat Laugier-Hunziker syndrome?

No treatment is required for Laugier-Hunziker syndrome. Laugier-Hunziker has no association with systemic diseases so there are few if any complications. If systemic symptoms are apparent a patient must be worked-up for another diagnosis. Cosmetically disfiguring or bothersome lesions may be treated with laser therapy.

How is longitudinal Melanonychia treated?

Treatment options

1. taking antibiotic or antifungal medications, if an infection is the cause.
2. treating the underlying disease or medical condition causing the melanonychia.

How many people in the world have Peutz-Jeghers syndrome?

PJS is considered to be rare. It is estimated that between 1 in 50,000 to 1 in 200,000 people will have PJS. The syndrome may be underdiagnosed because the skin features like freckles or pigmented spots are often not visible in adulthood.

Are Hamartomatous polyps premalignant?

Hamartomatous polyp usually appear macroscopically as pedunculated, cherry-red lesions. They vary in size and its characteristic histological structure allows the distinction between a Peutz-Jeghers and Juvenile Polyp[1].

Are hamartomas precancerous?

Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells.

How is Peutz-Jeghers syndrome ( PJs ) diagnosed?

A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS.

How many hamartomatous polyps are there in Peutz Jeghers syndrome?

≥1 hamartomatous polyps if family history of Peutz-Jeghers Syndrome (PJS) Prominent mucocutaneous melanosis if family history of PJS

How are lamina propria retained in Peutz Jeghers syndrome?

Glands may permeate muscle but no desmoplastic response Desmoplastic response usually present Lamina propria may be retained around entrapped glands No retained lamina propria around infiltrating glands Glands frequently have a mixed population of cell types – mucus, goblet, paneth cells

Can a genetic test confirm the diagnosis of PJS?

In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. [1]