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  • Title: Infantile systemic hyalinosis: report of three Iranian children and review of the literature.
    Author: Aghighi Y, Bahremand S, Nematollahi LR.
    Journal: Clin Rheumatol; 2007 Jan; 26(1):128-30. PubMed ID: 16328093.
    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.
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