[Hyaline juvenile fibromatosis: clinic, diagnostics, treatment]

Hyaline juvenile fibromatosis is a rare genetic disease, which is associated with ANTXR2 gene defect. Almost all organs and systems of the body are affected in this pathology. There are clinical symptoms: joint contracture, hyperpigmentation, skin damage like nodules, which can have different sizes, locations and forms, throughout the body, fibromatosis of the gums, internal organs damages (splenomegaly, hepatomegaly, anomalies of the kidneys and other organs), osteoporosis, increased susceptibility to infectious diseases, mental underdevelopment. In this article we describe clinical case of 6-old patient witht hyaline juvenile fibromatosis. The diagnosis was made on the basis of the clinical picture, additional research methods and the results of molecular genetic testing. The patient underwent a number of surgical interventions, histological examination of the surgical material and symptomatic therapy.