title: A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis.
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.
authors.affiliation: Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
authors.forename: Benal
authors.initials: B
authors.lastname: Büyükgebiz
authors.forename: Yesim
authors.initials: Y
authors.lastname: Oztürk
authors.forename: Nur
authors.initials: N
authors.lastname: Arslan
authors.forename: Erdener
authors.initials: E
authors.lastname: Ozer
mesh_terms: D003240:Connective Tissue Diseases / Q000150:complications* / Q000175:diagnosis; D002658:Developmental Disabilities / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D011504:Protein-Losing Enteropathies / Q000150:complications* / Q000175:diagnosis; D012871:Skin Diseases / Q000150:complications* / Q000175:diagnosis