Pirgon, ÖzgürAtabek, Mehmet EmreEsen, Hasan H.2024-03-082024-03-082007-07Pirgon, Ö. vd. (2007). "Infantile systemic hyalinosis with early thyroid dysfunction". Journal of Pediatric Endocrinology and Metabolism, 20(7), 833-836.0334-018Xhttps://www.degruyter.com/document/doi/10.1515/JPEM.2007.20.7.833/htmlhttps://hdl.handle.net/11452/40302Infantile 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.eninfo:eu-repo/semantics/closedAccessHypothyroidismInfantile systemic hyalinosisFibromatosisMutationsEndocrinology & metabolismPediatricsArticle0002487350000122-s2.0-3454825230183383620717849746https://doi.org/10.1515/JPEM.2007.20.7.833Endocrinology & metabolismPediatricsCase Report; Gingiva Hypertrophy; Anthrax Toxin ReceptorsArticleBone radiographyCase reportChildClinical featureDiet therapyEchographyFemaleFibromatosisGene deletionHistopathologyHomozygosityHormone substitutionHumanHuman tissueHypothyroidismMalnutritionMuscle biopsyMutational analysisOsteopeniaPhysical examinationProtein blood levelSkin biopsySkin examinationStop codonThyroid function testZinc blood levelCapillary morphogenesis protein 2Gene productLiothyronineProteinThyroid hormoneThyrotropinThyroxineUnclassified drugZinc2191-0251