Infantile systemic hyalinosis in identical twins
نویسندگان
چکیده
منابع مشابه
Infantile 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...
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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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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 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...
متن کاملJuvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?
We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyali...
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ژورنال
عنوان ژورنال: Intractable & Rare Diseases Research
سال: 2015
ISSN: 2186-361X,2186-3644
DOI: 10.5582/irdr.2015.01027