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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 24, No. 6, 2014, pp. 775-778
Bioline Code: pe14128
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 24, No. 6, 2014, pp. 775-778

 en Infantile Systemic Hyalinosis: Report of 17-year Experience
Raeeskarami, Seyed Reza; Aghighi, Yahya; Afshin, Azadeh; Malek, Abdolreza; Zamani, Ali & Ziaee, Vahid


Background: Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs.
Cases Presentation: We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick.
Conclusion: ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/ or infection.

Infantile Systemic Hyalinosis; Joint Contractures; Skin Thickness; Blond Hair; Hyaline Deposits

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