Infantile systemic hyalinosis with early thyroid dysfunction
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Date
2007
Journal Title
Journal ISSN
Volume Title
Publisher
WALTER DE GRUYTER GMBH
Access Rights
info:eu-repo/semantics/closedAccess
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.
Description
Keywords
infantile systemic hyalinosis, hypothyroidism
Journal or Series
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
WoS Q Value
Q3
Scopus Q Value
Q2
Volume
20
Issue
7
