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Infantile systemic hyalinosis: Case report and review of the literature

Lisa E Lindvall1, Tanya Kormeili, Elaine Chen

  • 1Department of Dermatology, Division of Genetics, University of California, Irvine, California 92868, USA.

Journal of the American Academy of Dermatology
|January 29, 2008
PubMed

Insights

Infantile systemic hyalinosis (ISH) is a rare genetic disorder causing severe symptoms and early fatality. A novel CMG2 gene mutation was identified in a patient, advancing understanding of this condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, fatal autosomal recessive disorder.
  • Onset typically occurs in early infancy, leading to death by age 2.
  • Characterized by systemic hyaline deposition, joint contractures, osteopenia, and failure to thrive.

Observation:

  • A patient presented with typical ISH clinical features including thickened skin, gingival hypertrophy, and diarrhea.
  • Histopathology confirmed diffuse hyaline deposits in dermal and visceral tissues.
  • Dermatologic findings included hyperpigmentation and perianal nodules.

Findings:

  • Genetic analysis identified a novel homozygous T118K mutation in the CMG2 gene.
  • This mutation is associated with the observed clinical and histopathological manifestations of ISH.
  • The findings link CMG2 gene mutations to the pathogenesis of infantile systemic hyalinosis.

Implications:

  • This discovery deepens the understanding of ISH's genetic basis.
  • It may facilitate earlier diagnosis and genetic counseling for affected families.
  • Further research into CMG2 function could reveal therapeutic targets for ISH.

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