Results 11 to 20 of about 273,607 (146)
Juvenile hyaline fibromatosis [PDF]
Indian Journal of Dermatology, 2011 Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees.
Jayashree Krishnamurthy +3 more
doaj +6 more sources
Juvenile Hyaline Fibromatosis [PDF]
Clinical and Experimental Otorhinolaryngology, 2010 Juvenile hyaline fibromatosis (JHF) is a rare, progressive autosomal recessive disease that's characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions.
Kyung Tae Park +2 more
doaj +8 more sources
Juvenile hyaline fibromatosis [PDF]
Contemporary Clinical Dentistry, 2018 Syndromes, especially if they occur early in the growth phase can be very debilitating and cause severe restriction of function. Juvenile hyaline fibromatosis is one such disorder.
Vikram Karande, Neelam Noel Andrade
doaj +4 more sources
Juvenile hyaline fibromatosis: A 10-year follow-up [PDF]
Indian Journal of Dermatology, 2017 Juvenile hyaline fibromatosis (JHF) is a rare hereditary disease with an autosomal recessive transmission. JHF is characterized by papulonodular skin lesions, osteolytic bone lesions, flexural joint contractures, and gingival hyperplasia and usually ...
Esra Baltacioglu +6 more
doaj +3 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
Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports [PDF]
Journal of Medical Case Reports, 2023 Background Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene.
Mariam M. Ismail +3 more
doaj +3 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 +3 more sources
A case report of juvenile hyaline fibromatosis [PDF]
Journal of Dermatology & Dermatologic Surgery, 2014 Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive disease characterized by early onset papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy, stunted growth and osteolytic bone lesions ...
Mohammed H. Abduljabbar
exaly +4 more sources
Hyaline fibromatosis syndrome: cutaneous manifestations [PDF]
Anais Brasileiros de Dermatologia, 2016 Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as “infantile systemic hyalinosis” and “juvenile hyaline fibromatosis”.
Silvio Alencar Marques +5 more
doaj +2 more sources
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 +2 more sources