Infantile Systemic Hyalinosis: Report of 17-year Experience

authors:

avatar Azadeh Afshin 1 , * , avatar Seyed Reza Raeeskarami 2 , avatar Yahya Aghighi 3 , avatar Abdolreza Malek 4 , avatar Ali Zamani 5 , avatar Vahid Ziaee 6

Iranian Journal of Pediatrics: Vol.24, issue 6; 775-778
published online: December 09, 2014
article type: Case Report
received: February 03, 2014
accepted: October 29, 2014

How To Cite Afshin A , Raeeskarami S R , Aghighi Y , Malek A , Zamani A , et al. Infantile Systemic Hyalinosis: Report of 17-year Experience. Iran J Pediatr. 2014;24(6): 775-778. 

Abstract

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.
 

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