Perioriform lentiginosis: causes, symptoms, diagnosis, treatment

Lentiginosis peri-official (synonym: Peits-Egers-Touraine syndrome).

Causes and pathogenesis. The disease belongs to the group of hereditary lentiginosis, which, in addition to the Peits-Egers-Turen syndrome, includes congenital and centrolithic lentiginosis. The cause and mechanism of the development of dermatosis has not been fully established. It is believed that the official lentiginosis period appears as a result of neuromesenchymal dysplasia caused by a gene mutation transmitted autosomally dominantly. There are reports of family cases of the disease. It was found that the pathological STK.11 gene is a tumor suppressor gene.

Symptoms of lentiginosis are peripheral. The disease develops immediately after birth or somewhat later. Characteristic of the appearance of multiple small pigment spots from light brown to black, oval or rounded outlines. Spots are localized around and in the mouth, on the lips, especially the lower, perinasal, periorbital, less often - on the limbs (palms and soles, the back surface of the fingers), conjunctiva. Eruptions such as lentigo can be limited and located only in one of the above areas. In the oral cavity, there may also be papillomatous changes. Only the cutaneous form of the disease is very rare. Most patients have a combination of skin lesions, mucous membranes with multiple polyps of the gastrointestinal tract, especially the small intestine. With age Pigmentation becomes intense and clinical manifestations of polyposis of the stomach and intestines develop: pain, vomiting, bleeding, symptoms of obstruction, invagination, secondary anemia, cachexia. There is an increased risk of malignant degeneration of polyps, mainly the stomach, duodenum, large intestine. In the literature, cases of the appearance of polyps on the mucous membranes of other organs (bladder, renal pelvis, ureter, bronchus, nose) are described.

Histopathology. There is an increase in the pigment in keratinocytes, the amount of melanocytes in the basal layer. In the dermis there is an accumulation of macrophages. Polyps are benign adenoma.

Differential diagnosis. Differentiate lentiginosis periorfinschalny is necessary from freckles, various forms of generalized lentigo (Leopard-syndrome, etc.), centrifugal lentiginosis, gastrointestinal polyposis, Addison's disease.

Treatment of lentiginosis peri-official. It is necessary to surgical removal of polyps, dispensary observation of patients and examination of relatives of the first degree of kinship.