Camurati-Engelmann Disease Overview
Learn About Camurati-Engelmann Disease
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein triggers chemical signals that regulate various cell activities, including the growth and division (proliferation) of cells, the maturation of cells to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis).
The prevalence of Camurati-Engelmann disease is unknown. More than 300 cases have been reported worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Rose Canyon Clinic - Family Medicine
Douglas Esplin is a primary care provider, practicing in Family Medicine in Riverton, Utah. Dr. Esplin has been practicing medicine for over 26 years and is rated as an Experienced provider by MediFind in the treatment of Camurati-Engelmann Disease. His top areas of expertise are Ribbing Disease, Camurati-Engelmann Disease, Seasonal Affective Disorder (SAD), and Folate Deficiency.
Pgimer
Sanjay Bhadada practices in Chandigarh, India. Mr. Bhadada is rated as a Distinguished expert by MediFind in the treatment of Camurati-Engelmann Disease. His top areas of expertise are Hyperparathyroidism, Parathyroid Cancer, Parathyroid Adenoma, Parathyroidectomy, and Pancreaticoduodenectomy.
Wim Van Hul practices in Antwerpen, Belgium. Van Hul is rated as a Distinguished expert by MediFind in the treatment of Camurati-Engelmann Disease. Their top areas of expertise are SOST-Related Sclerosing Bone Dysplasia, Osteopathia Striata Cranial Sclerosis, Camurati-Engelmann Disease, and Osteosclerosis Autosomal Dominant.
Summary: The understanding of ARVC pathophysiology remains incomplete. Several clues indicate that disease progression is mediated through inflammation. The present study aim to document the feasibility of detecting the potential presence of intracardiac local inflammatory components in patients with ARVC.
Published Date: November 01, 2017
Published By: National Institutes of Health