Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
Department Pathology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
Abstract
Infantile systemic hyalinosis is a rare, progressive, fatal condition with a presumably autosomal recessive mode of inheritance. It is characterized by widespread deposition of hyaline material in many tissues. We present a three-month-old girl with hypoproteinemia, growth retardation, and generalized stiff and edematous skin, who was diagnosed as protein-losing enteropathy. A final diagnosis of systemic hyalinosis was made. In this report, we present a very rare entity of infantile systemic hyalinosis, which is a cause of proteinlosing enteropathy and growth retardation in infancy, and review the relevant literature.