Infantile systemic hyalinosis: A case report
DOI:
https://doi.org/10.32677/IJCH.2015.v02.i03.011Keywords:
Capillary morphogenesis protein 2, Infantile systemic hyalinosis, Periodic acid schiff testAbstract
Infantile systemic hyalinosis (ISH) is a rare, progressive, autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in the skin, gastrointestinal tract, muscles, glands, and other organs. We report a child with this rare condition presenting with growth retardation, joint contractures, and intractable diarrhea. Though genetically analyzed, ISH still remains as a poorly understood disease raising concerns during diagnosis and treatment.
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Published
2015-09-27
Issue
Section
Case Reports
How to Cite
Infantile systemic hyalinosis: A case report. (2015). Indian Journal of Child Health, 2(3), 137-139. https://doi.org/10.32677/IJCH.2015.v02.i03.011