Lentiginosis peri-official( Peitsa-Djersa-Touren syndrome)
Disease is inherited by autosomal dominant type. When examining a person with such a syndrome, multiple small pigment spots around and in the mouth, on the lips, around the nose and eyes, rarely on the limbs( on the palms and soles, the back surface of the fingers) can be noted. Sometimes the spots are located only on the lips or in the mouth, occasionally they are all over the body. Changes can also be on the cornea of the eye. Most people with Peits-Jagers-Turen syndrome have a combination with multiple polyps of the gastrointestinal tract, and occasionally other localization( bladder, renal pelvis, ureter, bronchus, nose).There may be a significant difference in the signs of the syndrome among relatives.
Pigmentations develop in the first years of life, but can exist from birth or occur in adults. The formation of polyps in most cases is detected before the age of 20 years. With age, the intensity of pigmentation on the skin can decrease, in the oral cavity it usually remains unchanged. The appearance of polyposis can be suspected by the appearance of the following symptoms: pain, vomiting, bleeding, symptoms of intestinal obstruction, anemia. The incidence of gastrointestinal cancer is 2-20%.Treatment for polyposis only operative.
The whole range of possible manifestations of the disease is observed, as a rule, only in boys, which is explained by the inheritance features.
The disease begins in childhood, in most cases from five to ten years, with the thinning of the nails, until their complete disappearance, and skin lesions, also characterized by thinning, reticular pigmentation and vasodilation. The process is most pronounced on the neck, hips, the face, trunk, extremities, especially the most remote areas are affected. There may be foci of excessive keratinization on the skin of the palms and soles, excessive sweating, the formation of traumatic blisters. Changes in the mucous membranes develop several years later, characterized by blisters, erosions, and leukoplakia. There may be other changes: hair thinning, eye damage, blockage of the nasolacrimal canal with lacrimation, dystrophy of the teeth, physical and mental development, bone defects, liver, esophagus, genitourinary tract. Of malignant diseases, skin and mucous membranes are most common. The course of the disease is usually progressive, many cases result in death from bleeding, infections or tumors.
Treatment of is aimed at eliminating the symptoms of the disease. Carcinogenic effects should be avoided. It is important to identify early tumors, establish the type of inheritance for medical genetic counseling, especially in the case of pregnancy planning.