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Infantile systemic hyalinosis: a case report with a novel mutation

Siham Al Sinani1, Fathyia Al Murshedy, Reem Abdwani

  • 1Department of Child Health, Sultan Qaboos University Hospital, Al Khoud, Sultanate of Oman.

Oman Medical Journal
|February 7, 2013
PubMed

Insights

Infantile Systemic Hyalinosis (ISH) is a rare genetic disorder causing severe pain and joint issues. A novel ANTXR2 gene mutation was identified in an Omani child, highlighting the disease

Area of Science:

  • Genetics and rare diseases
  • Molecular biology
  • Pediatric pathology

Background:

  • Infantile Systemic Hyalinosis (ISH) is a rare, fatal autosomal recessive disorder.
  • Characterized by hyaline material deposition, skin nodules, gingival hypertrophy, and organ dysfunction.
  • Caused by mutations in the ANTXR2 gene, crucial for endothelial development.

Observation:

  • A case of classical ISH presenting in infancy with severe pain and joint contractures.
  • The patient exhibited features consistent with ISH, including progressive debilitating symptoms.
  • This is the first reported case of ISH in Oman.

Findings:

  • Molecular DNA sequencing confirmed ISH diagnosis.
  • A novel homozygous mutation in the ANTXR2 gene (c.867_945del, p.E289DfsX22) was identified.
  • This mutation involved a 79 bp deletion of exon 11.

Implications:

  • Suggests ISH may be under-diagnosed, particularly in regions with limited diagnostic resources.
  • Early diagnosis and genetic confirmation are crucial for understanding and managing ISH.
  • Highlights the importance of ANTXR2 gene sequencing for diagnosing rare pediatric disorders.

Keywords:
Infantile systemic hyalinosisJoint contracturesSkin thickness

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