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A Rare Case of Hereditary Multiple Exostoses in a Woman

Overview
Journal Orthop Nurs
Specialties Nursing
Orthopedics
Date 2024 Mar 28
PMID 38546687
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Abstract

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.

References
1.
Schmale G, Conrad 3rd E, Raskind W . The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994; 76(7):986-92. DOI: 10.2106/00004623-199407000-00005. View

2.
Goud A, de Lange J, Scholtes V, Bulstra S, Ham S . Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg Am. 2012; 94(11):1013-20. DOI: 10.2106/JBJS.K.00406. View

3.
DArienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R . Hereditary Multiple Exostoses: Current Insights. Orthop Res Rev. 2019; 11:199-211. PMC: 6916679. DOI: 10.2147/ORR.S183979. View

4.
Hazar Kanik Z, Gunaydin G, Sozlu U, Citaker S, Esen E . Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report. J Clin Diagn Res. 2016; 10(2):YD03-4. PMC: 4800639. DOI: 10.7860/JCDR/2016/16898.7302. View

5.
Czajka C, DiCaprio M . What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?. Clin Orthop Relat Res. 2015; 473(7):2355-61. PMC: 4457763. DOI: 10.1007/s11999-015-4134-z. View