A CASE OF ORPHAN HYALINE FIBROMATOSIS SYNDROME IN UKRAINE

Abstract

Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease. CMG2 encodes a transmembrane protein involved in endothelial development. Hyaline fibromatosis syndrome involves two allelic diseases that have the same phenotype. These are infantile systemic hyalinosis and juvenile hyaline fibromatosis. Common signs of these diseases are pain, joint contractures, skin lesions (thickening of the skin with areas of hyperpigmentation, pearl-sized nodules or papules), subcutaneous nodules on the head, neck, and extremities, gingival hypertrophy, osteopenia, protein-losing enteropathy, increased susceptibility to infectious diseases. Diseases differ in the time of the first clinical signs onset, the severity of the course, and the life expectancy of patients. In the case of infantile systemic hyalinosis, the prognosis is fatal. Hyaline fibromatosis syndrome is an orphan disease that is very difficult to diagnose. There is no pathogenetic treatment for the disease today. Clinical case. We described a case of hyaline fibromatosis syndrome in a boy who was observed and treated at the Municipal Non-Profit Enterprise of Sumy Regional Council "Regional Children's Clinical Hospital" (Ukraine). The diagnosis was made based on medical and genetic analysis. The early manifestation of symptoms and the severe course of the disease forced us to think about infantile systemic hyalinosis in the child. Along with characteristic external phenotypic signs, severe enteropathy with protein loss and persistent infections were observed in the child. As far as we know, this is the first case of the disease diagnosed in Ukraine. This publication aims to draw medical professionals' attention to the diversity of the course of genetic diseases in children. Comprehensive care, timely and symptomatic treatment make it possible to prolong the life of patients.