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  • Title: A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis.
    Author: Büyükgebiz B, Oztürk Y, Arslan N, Ozer E.
    Journal: Turk J Pediatr; 2003; 45(3):258-60. PubMed ID: 14696808.
    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 protein-losing enteropathy and growth retardation in infancy, and review the relevant literature.
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