title: Infantile systemic hyalinosis: report of three Iranian children and review of the literature.
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.
authors.affiliation: Department of Pediatrics, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Yahya
authors.initials: Y
authors.lastname: Aghighi
authors.forename: Shahla
authors.initials: S
authors.lastname: Bahremand
authors.forename: Laleh Razavi
authors.initials: LR
authors.lastname: Nematollahi
mesh_terms: D003286:Contracture / Q000473:pathology; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D007492:Iran; D007592:Joint Diseases / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009135:Muscular Diseases / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital* / Q000378:metabolism / Q000473:pathology