Infantile systemic hyalinosis with early thyroid dysfunction


Pirgon O., Atabek M. E. , Esen H. H. , Cangul H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.20, no.7, pp.833-836, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 7
  • Publication Date: 2007
  • Doi Number: 10.1515/jpem.2007.20.7.833
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.833-836

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.