title: Infantile systemic hyalinosis with early thyroid dysfunction.
abstract: Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs. We present an 18 month-old girl with infantile systemic hyalinosis and hypothyroidism. Newly diagnosed children with infantile systemic hyalinosis should have thyroid studies as a routine part of diagnostic work-up.
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey. ozpirgon@hotmail.com
authors.forename: Ozgur
authors.initials: O
authors.lastname: Pirgon
authors.forename: Mehmet Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: H Hasan
authors.initials: HH
authors.lastname: Esen
authors.forename: H
authors.initials: H
authors.lastname: Cangul
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D005923:Glomerulosclerosis, Focal Segmental; D006651:Histocytochemistry; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D012873:Skin Diseases, Genetic / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D013959:Thyroid Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism
chemical_list: D004247:DNA