Infantile systemic hyalinosis: A case report

Authors

  • Sanjay Kantharajapura Shivappa
  • G R Rajashekar Murthy
  • D V Venkatesh Murthy
  • S K Srinivas

DOI:

https://doi.org/10.32677/IJCH.2015.v02.i03.011

Keywords:

Capillary morphogenesis protein 2, Infantile systemic hyalinosis, Periodic acid schiff test

Abstract

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.

Downloads

Download data is not yet available.

Downloads

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

Most read articles by the same author(s)