Working Diagnosis:
Polyostotic, monomelic melorheostosis - a mesenchymal bone dysplasia

Treatment:
Patient was recommended a course of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) along with Physical Therapy/Occupational Therapy (PT/OT) focused on enhancing the strength and stability of her lower extremities. Additionally, weight loss was suggested as a measure to alleviate the impact on her long bones from exercising. Patient was also referred to genetics to gain a deeper understanding of any underlying genetic mutation or syndrome that could be contributing to her condition.

Outcome:
Following her initial visit, the patient was cleared to resume her regular activities without any restrictions on her marathon training. However, it was recommended that if her pain worsened or persisted, she should decrease running and switch to low impact activities such as aquatic aerobics. Additionally, it was advised that patient follow up in 1 year for reevaluation and continued monitoring of the bone dysplasia.

Author's Comments:
Melorheostosis is an exceedingly rare mesenchymal bone dysplasia, with only 400 reported cases worldwide, occurring in approximately 1 out of 1,000,000 people. This chronic condition affects the tubular bone cortex, leading to a distinct radiographic appearance resembling "dripping candle wax." While this typically affects the lower extremities, it can be found elsewhere in the body and may be associated with other genetic disorders. Although often painless, it can cause discomfort and even weakness in some cases. Available treatment options include NSAIDs, physical and occupational therapy, hydrotherapy, and medications to modify bone remodeling, such as bisphosphonates. In severe cases involving muscle contracture, surgical procedures like osteotomies, tendon release, or amputation may be necessary.

Editor's Comments:
Melorheostosis, also known as Leri's disease, primarily impacts the long bones of the lower and upper extremity. Adults typically experience vague pain as the predominant symptom. A distinctive radiographic feature known as the "dripping candle wax" appearance is pathognomonic for melorheostosis. Initial treatment options include pain management with NSAIDs or bisphosphonates as well as physical therapy. While surgical intervention is used for joint stiffness or muscle contractures. Patients are encouraged to engage in sports and recreational activities, though careful monitoring is essential due to the potential for ongoing progression of melorheostosis.

References:
McCuaig, C. C., MD, & Miedzybrodzki, B., MD (2024). Buschke-Ollendorff syndrome (J. L. Hand MD, Ed.). UpToDate.

Bell, D. J., BSc MBChB MRCP FRCR (2021). Melorheostosis. RadioPaedia. https://radiopaedia.org/articles/melorheostosis-1?lang=us

Mortier, G., MD, PhD, & Bundra, K., Pharm. D (2024). Melorheostosis. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/melorheostosis/

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