Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established. A case of systemic hyalinosis is reported and the main features of this unusual affection are quoted. Biopsies of nodules show an active proliferation of the connective tissue associated with some peculiar hyalin changes of the collagen fibres.
Most cases including the present one die in the first years.
The pathogenesis is presently unknown. The systemic hyalinosis seems to be an autosomic recessive heritable disorder and is reasonably settled in the large group of the hereditary diseases of the connective tissue.