Melorheostosis: A Systematic Review of Clinical Manifestations, Diagnostic Challenges, Therapeutic Strategies, and Physiotherapeutic Interventions.

Melorheostosis, also known as the "candle wax" disease, is a rare sclerotic bone disorder characterized by abnormal cortical thickening. It primarily affects long bones but may also involve soft tissues and skin. The disease significantly impacts the quality of life through pain, stiffness, and deformities. Despite its rarity, the condition poses diagnostic and therapeutic challenges, requiring multidisciplinary approaches for effective management. This study aimed to systematically review clinical manifestations, diagnostic challenges, therapeutic strategies, and the role of physiotherapeutic interventions in melorheostosis between 2010 and 2024. This systematic review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Data were extracted from PubMed, EMBASE, PEDro, and the Cochrane Library using the MeSH term "melorheostosis." A total of 357 records were identified, of which five studies met the inclusion criteria. Key outcomes were synthesized across clinical, diagnostic, and therapeutic dimensions, with an emphasis on physiotherapy's role. The included studies (n = 5) analyzed 423 participants with melorheostosis. Clinical manifestations included pain, stiffness, and deformities, with the lower limbs most frequently affected. Diagnostic challenges stemmed from variability in radiographic features and overlap with other bone disorders. Conservative treatments, such as non-steroidal anti-inflammatory drugs (NSAIDs) and physiotherapy, improved symptoms, while surgical interventions addressed severe deformities but showed high recurrence rates. Physiotherapy emerged as a cornerstone of care, incorporating stretching, strengthening, and pacing techniques to improve mobility and reduce pain. Melorheostosis requires a multidisciplinary approach due to its complexity and variability. Physiotherapy significantly improves functional outcomes and quality of life, but further research is needed to establish standardized treatment protocols and explore genetic underpinnings.