Login / Signup

A Rare Case of Hereditary Multiple Exostoses in a Woman.

Ranya Alawy Ghamri
Published in: Orthopedic nursing (2024)
Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.
Keyphrases
  • case report
  • rare case
  • patient reported
  • systematic review
  • genome wide
  • chronic pain
  • palliative care
  • spinal cord
  • gene expression
  • knee osteoarthritis
  • physical activity
  • depressive symptoms