The physical education and the Infantile Systemic Hyalinosis: A case report [PDF]
Heliyon, 2020 The purpose of this case report is to present the case study of a child with Systemic Infantile Hyalinosis in the educational attendance specialized in Physical Education and Art (dance).
Elvio Marcos Boato
exaly +7 more sources
Infantile systemic hyalinosis: Variable grades of severity [PDF]
African Journal of Paediatric Surgery, 2021 Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures ...
Ali Al Kaissi +10 more
doaj +4 more sources
Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report [PDF]
Clinical Case ReportsInfantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite ...
Lilyan Jarrar +6 more
doaj +3 more sources
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form—infantile systemic hyalinosis (ISH)—with long
Yunqian Zhu +5 more
doaj +3 more sources
Infantile systemic hyalinosis: A case report and review of literature [PDF]
Indian Dermatology Online Journal, 2010 We report a case of infantile systemic hyalinosis in a 3.5-month-old male child born out of consanguineous marriage. He presented with multiple brownish raised lesions over bony prominences.
Bhushan Madke +4 more
doaj +4 more sources
Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A [PDF]
Clinical Case ReportsHyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2).
Shabnam Hajiani Ghotbabadi +3 more
doaj +3 more sources
Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation [PDF]
Oman Medical Journal, 2013 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 ...
Siham Al Sinani +2 more
doaj +4 more sources
Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report [PDF]
BMC Pediatrics, 2023 Background Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations.
Fatemeh Owlia +3 more
doaj +2 more sources
Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy [PDF]
Annals of Saudi Medicine, 2012 Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules.
Khalid Alreheili +5 more
doaj +2 more sources
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation
Molecular Genetics & Genomic Medicine, 2020 Background Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2.
Bettina Härter +7 more
doaj +2 more sources