Lentiginosis periorificialis: causes, symptoms, diagnosis, treatment

Lentiginosis periorificialis (synonym: Peutz-Jeghers-Touraine syndrome).

Causes and pathogenesis. The disease belongs to the group of hereditary lentigines, which in addition to Peutz-Jeghers-Touraine syndrome includes congenital and centrofacial lentigines. The cause and mechanism of development of the dermatosis have not been finally established. It is believed that periorificial lentigines occur as a result of neuromesenchymal dysplasia caused by a gene mutation transmitted in an autosomal dominant manner. There are reports of familial cases of the disease. It was revealed that the pathological gene STK.11 is a tumor suppressor gene.

Symptoms of periorificial lentiginosis. The disease develops immediately after birth or somewhat later. Characterized by the appearance of multiple small pigment spots from light brown to black, oval or rounded outlines. The spots are localized around and in the oral cavity, on the lips, especially the lower one, perinasal, periorbital, less often - on the extremities (palms and soles, dorsum of the fingers), conjunctiva. Lentigo-type rashes can be limited and located only in one of the above areas. Papillomatous changes can also be present in the oral cavity. 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, intussusception, secondary anemia, cachexia. There is an increased risk of malignant degeneration of polyps, mainly of the stomach, duodenum, and colon. The literature describes cases of polyps appearing on the mucous membranes of other organs (bladder, renal pelvis, ureter, bronchi, nose).

Histopathology. Increased pigment in keratinocytes and melanocytes in the basal layer are noted. Macrophage accumulation is observed in the dermis. Polyps are benign adenomas.

Differential diagnosis. It is necessary to differentiate periorificial lentiginosis from freckles, various forms of generalized lentigo (Leopard syndrome, etc.), centrofacial lentiginosis, gastrointestinal polyposis, Addison's disease.

Treatment of periorificial lentiginosis. Surgical removal of polyps, dispensary observation of patients and examination of first-degree relatives are necessary.