Results 61 to 70 of about 625 (116)

Management of Scalp Nodules and Systemic Manifestations in Hyaline Fibromatosis Syndrome

World Journal of Advanced Research and Reviews
Hyaline fibromatosis syndrome (HFS) is an extremely rare autosomal recessive disorder caused by mutations in the ANTXR2 gene, leading to the accumulation of hyaline material in various tissues. It encompasses two clinical phenotypes previously thought to be distinct: Juvenile Hyaline Fibromatosis (JHF) and Infantile Systemic Hyalinosis (ISH). We report
aissaoui, Imane El, Bouazza, Omar, Barij, Hamza, Mai, Aicha, Mahioui, Mimoun, Echmili, Mouad, adak, Hanane el, Dehhaze, Adil   +7 more
openaire   +1 more source

[Hyaline fibromatosis syndrome: case report of two siblings].

Archivos argentinos de pediatria, 2017
Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues.
Diego Alejandro, Rangel Rivera, Víctor Clemente, Mendoza Rojas, Claudia Janeth, Uribe Pérez, Gustavo Adolfo, Contreras-García   +3 more
openaire   +1 more source

Laser for surgical treatment of generalized gingival fibromatosis associated with juvenile hyaline fibromatosis syndrome: case report

Brazilian Journal of Health Review
Juvenile Hyaline Fibromatosis Syndrome (JHFS) is a rare autosomal recessive disease that is characterized by the deposition of an amorphous hyaline substance in the most diverse organs, as in gingival tissue. Gingival fibromatosis as a result of the syndrome is not a self-correcting complication and surgical removal of this tissue is the most indicated
João Victor Melo Barboza, Joyce Carrijo Rodrigues Silva Costa, Laiz Moreira de Paula, Sara Maria do Amaral Melo, Liandra Alves Botacin, Francine do Couto Lima Moreira, Maria Alves Garcia Santos Silva, Vigilio Moreira Roriz   +7 more
openaire   +1 more source

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy. [PDF]

Int J Mol Sci, 2020
van Rijn JM, Werner L, Aydemir Y, Spronck JMA, Pode-Shakked B, van Hoesel M, Shimshoni E, Polak-Charcon S, Talmi L, Eren M, Weiss B, H J Houwen R, Barshack I, Somech R, Nieuwenhuis EES, Sagi I, Raas-Rothschild A, Middendorp S, Shouval DS.   +18 more
europepmc   +1 more source

Hyaline Fibromatosis Syndrome: Presentation of a Rare Case in Adult and Advanced Stage

Fiziksel Tıp ve Rehabilitasyon Bilimleri Dergisi, 2021
Sevinç KÜLEKÇİOĞLU, Merve AKYÜZ
openaire   +2 more sources

Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. [PDF]

BMC Genet, 2017
Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A.   +12 more
europepmc   +1 more source

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report. [PDF]

BMC Pediatr, 2023
Owlia F, Navabazam A, Akhavan-Karbasi MH, Derakhshan Barjoei MM.   +3 more
europepmc   +1 more source

Infantile Systemic Hyalinosis: A Case Report and Literature Review. [PDF]

Cureus, 2023
Mohammed SE, Mohammed MM, Saeed M, Al Zahrani D, Alasmari BG.   +4 more
europepmc   +1 more source

Atypical Presentation of Lip Nodules in Clinically Diagnosed Juvenile Hyaline Fibromatosis. [PDF]

Cureus, 2023
Khoo ET, Tan JA, Al-Chalabi MMM, Mat Zain MA, Wan Sulaiman WA.   +4 more
europepmc   +1 more source

Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. [PDF]

EMBO Mol Med, 2011
Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG.   +11 more
europepmc   +1 more source