INFANTILE SYSTEMIC HYALINOSIS: A CASE REPORT
نویسندگان
چکیده
منابع مشابه
Infantile systemic hyalinosis: a case report with a novel mutation.
Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle ...
متن کاملInfantile systemic hyalinosis.
Infantile systemic hyalinosis is a rare disorder characterized by widespread deposition of hyaline. They usually present with skin lesions, joint contractures, and intractable diarrhea. We report a 2 year 4 month old boy with growth retardation, typical facial appearance, gingival enlargement, generalized stiff skin, joint contractures, and intermittent diarrhea. Skin biopsy revealed depositio...
متن کاملInfantile Systemic Hyalinosis: Report of 17-year Experience
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 clinica...
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Abstract Background Infantile Fibrosarcoma is a rare soft tissue tumor in infants and children mostly located in extremities. An infantile and adult form has similar histopathological patterns but survival prognosis is much better in infantile form. Recurrence of infantile fibrosarcoma is common but the rates of metastasis are less than 10 percent in children younger than five Years and 50 p...
متن کاملA rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis.
Infantile systemic hyalinosis is a rare, progressive, fatal condition with a presumably autosomal recessive mode of inheritance. It is characterized by widespread deposition of hyaline material in many tissues. We present a three-month-old girl with hypoproteinemia, growth retardation, and generalized stiff and edematous skin, who was diagnosed as protein-losing enteropathy. A final diagnosis o...
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ژورنال
عنوان ژورنال: Indian Journal of Child Health
سال: 2015
ISSN: 2349-6118,2349-6126
DOI: 10.32677/ijch.2015.v02.i03.011