Melorheostosis: segmental osteopoikilosis or a separate entity?

Area of Science:

• Orthopedics
• Medical Genetics

Background:

• Melorheostosis is a rare, progressive hyperostotic bone disease primarily affecting the appendicular skeleton.
• It shares features with other hyperostosis conditions like osteopoikilosis, suggesting a potential clinical spectrum.

Observation:

• Two patients with melorheostosis exhibited distinct clinical presentations and anatomical involvement.
• One patient had foot asymmetry, pain, limping, and forehead lesions; the other had gait issues without pain.

Findings:

• Radiographs revealed endosteal hyperostosis, indicating a mixed melorheostosis and osteopoikilosis picture.
• Genetic testing for the LEMD3 gene was negative in both melorheostosis patients.

Implications:

• Melorheostosis diagnosis relies on clinical and radiographic findings.
• Distinguishing melorheostosis from other hyperostosis conditions can be diagnostically challenging.