Infantile systemic hyalinosis: A case report with a novel mutation

Siham Al Sinani, Fathyia Al Murshedy, Reem Abdwani

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. Tere is difuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. Te diagnosis was confrmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the frst reported case of ISH in Oman, we believe that the disease is under-diagnosed since children afected with this lethal disease pass away early in infancy prior to establishing a fnal diagnosis.

Original languageEnglish
Pages (from-to)53-55
Number of pages3
JournalOman Medical Journal
Volume28
Issue number1
DOIs
Publication statusPublished - 2013

Keywords

  • Infantile systemic hyalinosis
  • Joint contractures
  • Skin thickness

ASJC Scopus subject areas

  • Medicine(all)

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