Peutz-Touraine Periorificial Lentiginosis

Peutz-Jeghers syndrome (PJS) is a rare hereditary disease characterized by the appearance of polyps in the gastrointestinal tract and hyperpigmentation of the skin and mucous membranes. The disease was first described by the Dutch physician Johannes Peutz and the French dermatologist Alfred Touraine at the beginning of the 20th century.

Polyps characteristic of PJS can appear in any part of the gastrointestinal tract, but are most often found in the small intestine. They can cause intestinal obstruction, bleeding and anemia. In addition, patients with PJS have an increased risk of developing malignant tumors, especially colon, stomach, pancreatic, ovarian, and breast cancers.

Hyperpigmentation of the skin and mucous membranes is one of the most characteristic signs of PJS. This appears as dark spots on the lips, face, hands, feet and genitals. In children, these spots can appear at an early age, and in adults they can intensify and spread.

PJS is inherited according to the principle of autosomal dominant inheritance, that is, the presence of a mutation in one of the two genes responsible for the development of the disease is sufficient. However, in some cases, new mutations can occur in people without a family history of PJS.

Diagnosis of PJS is based on clinical signs of the disease, as well as on the result of histological examination of biopsy materials when polyps are detected. Genetic testing can help identify mutations responsible for the development of PJS, as well as early diagnosis in relatives of patients.

Treatment for PJS is aimed at controlling symptoms and preventing the development of malignancies. Regular endoscopic examination of the gastrointestinal tract makes it possible to identify and remove polyps before they undergo malignant degeneration. In patients with an increased risk of developing cancer, prophylactic removal of organs susceptible to the development of malignant tumors is recommended.

In conclusion, PJS is a rare inherited disease that is characterized by the appearance of polyps in the gastrointestinal tract and hyperpigmentation of the skin and mucous membranes. Early diagnosis and symptom control are key measures to prevent the development of malignant tumors and improve the prognosis of the disease. It is also important to conduct genetic testing in relatives of patients in order to identify their risk of developing PJS and promptly begin preventive measures. Regular medical examination and compliance with doctors' recommendations will help PJS patients live a full life and reduce the risk of complications.

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Peutz-Tourain's periorificial lentigiosus or lentigoniosis (PL or PL) is a rare benign melanocytic hyperplasia of the skin and mucous membranes, characterized by multiple small flat formations of a brownish color with fibrosis and pigmentation disorders. PPL is often associated with tumors of the digestive tract and hamartomas of the intestinal mucosa. More than 75% of all gastrointestinal tumors are associated with PPL, which provides important information about the possible role of inherited factors in the development of melanocytes and the development of various tumors.