Infantile systemic hyalinosis.
case_report · Level V
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- Record sourced from PubMed, PMID 14726869.
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Abstract
Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life. Both patients died before 2 years of age.
Medical subject headings
- Collagen Diseases
- Contracture
- Hyalin
- Pigmentation Disorders