Ontology highlight
ABSTRACT:
SUBMITTER: Taylor AJ
PROVIDER: S-EPMC8076616 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature

Taylor Adam J AJ Runner Robert P RP Longjohn Donald B DB Najibi Soheil S
Arthroplasty today 20210414
Camurati-Engelmann disease (CED) is an extremely rare, sclerosing bone disorder of intramedullary ossification with only 300 reported cases worldwide. The pathogenesis is related to activating mutations in transforming growth factor beta 1, which results in bilateral, symmetric hyperostosis affecting primarily the diaphysis of long bones. Despite effective pharmacological treatment options, the diagnosis of CED is problematic owning to its rarity and variability of clinical presentation. We pres ...[more]