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Clinical Rheumatology

, Volume 26, Issue 1, pp 128–130 | Cite as

Infantile systemic hyalinosis: report of three Iranian children and review of the literature

  • Yahya Aghighi
  • Shahla Bahremand
  • Laleh Razavi NematollahiEmail author
Case Report

Abstract

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within 6 months of life. The disease is manifested by painful progressive joint contractures, thick skin with hyperpigmentation, susceptibility to bone fractures, infections, failure to thrive and persistent diarrhea due to protein-losing enteropathy. Here, we report three unrelated Iranian children with a limited range of joint movements in the first month of life, skin hyperpigmentation and painful joint contractures. Pathological findings also confirmed the diagnosis of ISH in these patients.

Keywords

Infantile systemic hyalinosis Joint contractures Protein-losing enteropathy Thickness of skin 

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Copyright information

© Clinical Rheumatology 2005

Authors and Affiliations

  • Yahya Aghighi
    • 1
  • Shahla Bahremand
    • 1
  • Laleh Razavi Nematollahi
    • 1
    Email author
  1. 1.Department of PediatricsImam Khomeini Hospital, Tehran University of Medical SciencesTehranIran

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