Related Experiment Video

Updated: May 8, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

25.1K

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report

Lilyan Jarrar1, Sara Mutan2, Lana Malhis3

  • 1Jenin Governmental Hospital Jenin Palestine.

Clinical Case Reports
|March 30, 2026
PubMed

Insights

Infantile systemic hyalinosis (ISH) presents with contractures, skin changes, and diarrhea in infants from consanguineous families. Early diagnosis and supportive care are crucial for managing this rare genetic disorder.

Area of Science:

  • Pediatric Genetics
  • Rare Diseases
  • Dermatology

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, severe genetic disorder.
  • It typically manifests in infancy with distinctive clinical features.

Purpose of the Study:

  • To highlight key clinical indicators for suspecting ISH.
  • To emphasize the importance of early recognition and intervention.

Main Methods:

  • Clinical case review and analysis of presenting symptoms.
  • Genetic counseling and diagnostic considerations.

Main Results:

  • Contractures, skin changes, and diarrhea are significant indicators of ISH.
  • Consanguinity in families increases suspicion.

Conclusions:

  • Early identification of ISH enables prompt genetic testing and supportive management.
  • While prognosis is poor, timely intervention can improve family outcomes and care.

Keywords:
Arabsconsanguinitygenetic testinghyaline fibromatosis syndrome

More Related Videos

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

16.6K
Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

52.8K

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,...