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Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement:

Ghada Y El-Kamah1, Mostafa I Mostafa

  • 1Clinical Genetics Department, Division of Human Genetics and Genome Research National Research Centre, Cairo, Egypt.

Dermatology Online Journal
|July 24, 2009
PubMed

Insights

Infantile systemic hyalinosis (ISH) is a rare, fatal genetic disorder causing hyaline material deposition. This case highlights clinical variations in affected siblings within an Egyptian family.

Area of Science:

  • Genetics
  • Pediatrics
  • Pathology

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder.
  • Characterized by widespread hyaline material deposition in tissues.
  • Leads to progressive, fatal outcomes in infants.

Observation:

  • A 4-year-old male presented with growth retardation, enlarged gums, stiff skin, joint contractures, and severe diarrhea.
  • Family history revealed siblings with a more severe disease course.
  • Diagnosis of ISH was confirmed.

Findings:

  • The proband exhibited typical ISH symptoms, including growth failure and joint contractures.
  • Clinical heterogeneity was observed among the siblings.
  • This is the first reported Egyptian family with ISH.

Implications:

  • Highlights the importance of recognizing ISH in infants with unexplained symptoms.
  • Emphasizes the variable clinical presentation of ISH.
  • Contributes to understanding the genetic and clinical spectrum of ISH.

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