Abstract
Background:
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease which happens within the first weeks of life. It is present in Saudi Arabia due to positive parental consanguinity. A suggestive diagnostic criterion was proposed which would be helpful in determining ISH.
Case Presentation:
Seven children were diagnosed with infantile systemic hyalinosis based on clinical pictures and histopathological examination. A prospective consecutive and observational study was designed to determine the diagnostic criteria of ISH. On clinical examination, all patients had joints contractures which lead to frog like position, hyperpigmentation overlying the distal joints, in addition to failure to thrive. Only five patients of seven (71.42%) had erythematous papules coalesce to form plaque on the posterior neck. Out of seven, four patients (57.14%) had nodules (perianal & subcutaneous), and gingival hypertrophy. Three patients of seven (42.85%) had intractable diarrhea. And just one patient (14.28%) had small pearly skin papules on the face. Hyaline deposits were evident in histopathological examination of the skin biopsies for all the patients. Although, severity index and genetic study was unavailable
Conclusion:
Infantile systemic hyalinosis is a congenital disease characterized by excessive hyaline deposits. Diagnostic criterion was evaluated for the seven patients as three major criteria and five minor criteria. It was suggested that the presence of all three major criteria or two major and two minor criteria is essential for the diagnosis of infantile systemic hyalinosis. The diagnostic criterion would help in the early evaluation of the disease prognosis and would enhance early intervention.

Key words: Infantile systemic hyalinosis, autosomal recessive, joint contracture, perianal nodule.