Related Experiment Video

Updated: Aug 22, 2026

Assessment and Characterization of Hyaloid Vessels in Mice
08:22

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Infantile systemic hyalinosis: a clinicopathological study

Germán Rodríguez Criado1, Antonio González-Meneses, Manuela Cañadas

  • 1Dysmorphology Unit, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain. german@cica.es

American Journal of Medical Genetics. Part A
|August 25, 2004
PubMed

Insights

Infantile systemic hyalinosis (ISH) is a rare genetic disorder causing painful symptoms and skin abnormalities. This study details two cases, highlighting the characteristic extracellular matrix accumulation and early mortality in ISH.

Area of Science:

  • Genetics
  • Pathology
  • Pediatrics

Background:

  • Infantile systemic hyalinosis (ISH) is an autosomal recessive connective tissue disorder.
  • Clinical manifestations typically emerge at birth or shortly after, leading to significant morbidity.

Observation:

  • Two unrelated patients with ISH were studied, focusing on clinical and pathological aspects.
  • Symptoms included pain, joint swelling, dermal anomalies, failure to thrive, and recurrent infections.
  • Skin showed diminished elasticity with characteristic pearly papules.

Findings:

  • Retrospective diagnosis in one patient after death.
  • Ultrastructural examination revealed extracellular matrix accumulation of fibrillogranular material.
  • Presence of long-spacing collagen (90 nm) was noted in both patients.

Implications:

  • ISH is associated with a poor prognosis, with affected children often succumbing by age 2-3.
  • Understanding the ultrastructural pathology aids in diagnosing this rare condition.
  • Further research into the genetic basis and potential treatments for ISH is warranted.

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...