WebJuvenile hyaline fibromatosis (JHF) is a rare genetic disorder characterized by the accumulation of hyaline material in the body's tissues. The disease is caused by mutations in the ANTXR2 (anthrax toxin receptor cell adhesion molecule 2) gene and affects multiple systems, including the skin, bones, and internal organs. WebSep 1, 2009 · Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin.

Hyaline Fibromatosis Syndrome - GeneReviews® - NCBI Bookshelf

WebInfantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal … WebSep 13, 2024 · Juvenile hyaline fibromatosis, also known as hyaline fibromatosis syndrome or infantile systemic hyalinosis is a rare autosomal recessive syndrome outlined by … ciao takeaway burnley

Infantile Systemic Hyalinosis Dermatology - JAMA Network

WebOct 1, 2004 · Systemic Hyalinosis Mutations in the CMG2 Ectodomain Leading to Loss of Function Through Retention in the Endoplasmic Reticulum Article Apr 2009 HUM MUTAT Julie Deuquet Laurence Abrami Analisa... WebHyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the … WebIn more severe cases (previously diagnosed as infantile systemic hyalinosis), signs and symptoms are present at birth or begin within the first few months of life and can be life-threatening. In milder cases (previously diagnosed as juvenile hyaline fibromatosis), signs and symptoms begin in childhood and affect fewer body systems.\n\nOne of ... ciaotickets account