Hyaline Fibromatosis SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. In 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.
Hyaline fibromatosis syndrome is caused by mutations in a gene called ANTXR2. This gene provides instructions for making a protein that is found at the surface of many types of cells. The ANTXR2 protein is believed to interact with components of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. This matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. The ANTXR2 protein may play a role in the structure of the extracellular matrix. The nature of the hyaline substance that builds up in hyaline fibromatosis syndrome is unknown, but it likely contains extracellular matrix proteins, among other materials.
Hyaline fibromatosis syndrome is a rare condition. Its prevalence is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Malcolm Mason practices practicing medicine in Cardiff, United Kingdom. Mr. Mason is rated as a Distinguished expert by MediFind in the treatment of Hyaline Fibromatosis Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Prostate Cancer, Hyaline Fibromatosis Syndrome, Anthrax Infection, Orchiectomy, and Prostatectomy.
Montefiore Medical Group, Comprehensive Family Care Center
Molly Fisher, D.O., is an Assistant Professor of Medicine in the Division of Nephrology at Montefiore Medical Center/ Albert Einstein College of Medicine. She earned her medical degree at Des Moines University in Des Moines, Iowa in 2011. She then completed her internal medicine residency at Stamford Hospital/ Columbia University College of Physicians and Surgeons in 2014, followed by a nephrology fellowship at Montefiore Medical Center/ Albert Einstein College of Medicine in 2017. Dr. Fisher is board certified in internal medicine and nephrology. Her areas of clinical expertise include management of resistant hypertension, out-of-office blood pressure monitoring and virally mediated kidney disease. She is a certified hypertension specialist and is the Director of the Montefiore Ambulatory Blood Pressure Monitoring Program and the Nephrology Division Remote Blood Pressure Monitoring Program. She also leads an HIV-Kidney Disease Clinic at the AIDS Center for Positive Living, one of the largest HIV clinics in the United States. She is an active member of the American Society of Nephrology and serves on the ASN In-Training Exam Committee. Dr. Fisher is rated as an Advanced provider by MediFind in the treatment of Hyaline Fibromatosis Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Hyaline Fibromatosis Syndrome, and Minimal Change Disease.
Francoise Van Der Goot practices practicing medicine in Lausanne, Switzerland. Ms. Van Der Goot is rated as a Distinguished expert by MediFind in the treatment of Hyaline Fibromatosis Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Hyaline Fibromatosis Syndrome, GAPO Syndrome, Anthrax Infection, and Odontotrichomelic Syndrome.
Summary: Glomerulonephritis (GN) generates an enormous individual and social economic burden. However, the therapeutic options are largely based on clinical and pathological parameters and the individual response to therapy or prognosis is uncertain. Recently, along with advances in molecular analysis and computational bioinformatics, genomic data from human renal biopsies could provide a strong foundation...
Published Date: March 01, 2019
Published By: National Institutes of Health