Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation [PDF]
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.
Franco Stanzial +2 more
exaly +10 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
Bingbing Wu, Dahui Wang, Guo-min Li
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
exaly +10 more sources
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome [PDF]
Acta Stomatologica Croatica, 2020 Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement.
Predrag Knežević +5 more
doaj +5 more sources
Hyaline fibromatosis syndrome: A rare inherited disorder [PDF]
Indian Journal of Dermatology, 2016 Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs.
Meeta Dipak Mantri +3 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
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 +2 more sources
Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene [PDF]
BMC Oral Health, 2021 Background Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2).
Yiying Liu +4 more
doaj +2 more sources
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome [PDF]
Nature Communications, 2017 Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI ...
Jérôme Bürgi +10 more
doaj +2 more sources
Very Rare Case of Hyaline Fibromatosis Syndrome Successfully Treated with Surgical Excision and Review of Literature [PDF]
Archives of Plastic SurgeryHyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by ANTXR2 gene mutations, resulting in abnormal deposition of hyaline material in connective tissues. Fewer than 100 cases have been documented worldwide.
Yong Uk Jung, Byung-jun Kim, Eun-Hee Kim
doaj +2 more sources