Title of article :
Infantile Systemic Hyalinosis: Report of 17-year Experience
Author/Authors :
Raeeskarami, Reza Tehran University of Medical Sciences , Aghighi, Yahya Tehran University of Medical Sciences , Afshin, Azadeh Tehran University of Medical Sciences , Malek, Abdolreza Mashhad University of Medical Sciences , Zamani, Ali Tehran University of Medical Sciences , Ziaee, Vahid Tehran University of Medical Sciences
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.
Keywords :
Infantile Systemic Hyalinosis , Joint Contractures , Skin Thickness , Blond Hair , Hyaline Deposits
Journal title :
Astroparticle Physics
