A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

Rebisi A. Owhonda, Joel E. Wells, Eric W. Lloyd, Steven Mumm, Virginia Kimonis

Research output: Contribution to journalArticle

Abstract

CASE: A 44-year-old woman presented with easy fatigability, diplopia, dizziness, and a 2-year history of pelvic, hip, and lower extremity aching and pain. Radiograph, magnetic resonance imaging, computed tomography, and histopathologic imaging studies were obtained. Hypersclerosis of the affected bones led to the initiation of a sclerotic bone dysplasia workup and sequencing of the transforming growth factor beta 1 gene located on chromosome 19q13 revealed a heterozygous rare missense variant in exon-4, leading to a final diagnosis of Camurati-Engelmann disease (CED). Medical treatment thus far has had a minimal effect on her symptoms, and the patient continues to be followed. CONCLUSIONS: This specific mutation has been reported only once previously in a patient with CED. This case report expands the typical phenotype associated with CED in association with the c.667T>C, p.Cys223Arg variant.

Original languageEnglish (US)
Pages (from-to)e1900400
JournalJBJS Case Connector
Volume10
Issue number3
DOIs
StatePublished - Jul 1 2020

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

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