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

## TL;DR

This case report highlights the early diagnosis of a rare genetic disorder in a Palestinian infant, emphasizing the importance of timely genetic testing and family support.

## Contribution

The novelty lies in presenting a case of infantile systemic hyalinosis in a Palestinian context, emphasizing early recognition and management strategies.

## Key findings

- Infantile systemic hyalinosis was diagnosed in a consanguineous family based on clinical signs.
- Early recognition enabled genetic testing and counseling, aiding family outcomes.
- The case underscores the importance of considering this condition in infants with specific symptoms.

## Abstract

Infantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite poor prognosis.