Radiologic polymorphism in melorheostosis: insights from a retrospective review of an Indian rare bone disease registry

Melorheostosis, or Leri’s disease, is a rare sclerotic bone disorder characterized by a wax-like appearance due to excess cortical bone formation. It affects both genders equally, with a prevalence of approximately 0.9 cases per million, and typically presents during adolescence. Patients commonly experience pain and functional disability, with the potential for contractures and deformities in chronic cases.

This retrospective review was based on the institute’s rare metabolic bone disease registry (www.rarembd.in). It evaluated the clinical profile, biochemistry, and radiology of patients presented to the institute and incorporated into the registry. This study incorporated subjects presented to this institute between January 2007 and October 2024.

Among 268 rare metabolic bone disease patients incorporated into the registry, 3 were diagnosed with melorheostosis. All three were female, and their ages at presentation were 25, 27, and 45 years. Presenting symptoms included localized pain and functional impairment. Each case demonstrated distinct radiological variants: one showed the classic candle wax appearance, while others exhibited myositis ossificans-like and endosteal osteoma-like features. Management focused on symptomatic relief with non-steroidal anti-inflammatory drugs and bisphosphonates, with variable responses.

In our small series, all three patients were female with lower limb involvement, presenting with pain and functional impairment. Each case demonstrated a distinct radiological variant of melorheostosis. Management was symptomatic with variable response. The rarity of melorheostosis underscores the importance of awareness and thorough differential diagnosis in clinical practice.