Ollier Disease: Pathogenesis, Diagnosis, and Management

Area of Science:

• Genetics and Molecular Biology
• Orthopedics
• Pathology

Background:

• Ollier disease (Spranger type I) is a rare skeletal disorder characterized by multiple enchondromatosis, typically affecting the appendicular skeleton asymmetrically.
• The precise pathogenesis remains unclear, though genetic factors like mutations in PTHR1, IDH1, and IDH2, along with copy number alterations, are implicated.

Purpose of the Study:

• To provide a comprehensive review of Ollier disease, consolidating information on its genetic underpinnings, clinical manifestations, radiological findings, pathology, and treatment.
• To address the paucity of data regarding diagnosis, management, prognostication, and rehabilitation for Ollier disease.

Main Methods:

• Literature review and synthesis of existing data on Ollier disease.
• Description of genetic events, clinical presentations, radiological features (radiographs, CT, MRI), and pathological findings.
• Discussion of treatment options, including conservative management and interventions for complex cases.

Main Results:

• Ollier disease pathogenesis involves genomic copy number alterations and mutations in key pathways.
• Clinical presentations are diverse, with enchondromas most common in phalanges and metacarpals.
• Radiological features include asymmetrical osteolytic lesions with well-defined, sclerotic margins.

Conclusions:

• A comprehensive understanding of Ollier disease requires integrating genetic, clinical, radiological, and pathological data.
• Further research and standardized approaches are needed for optimal diagnosis, management, and rehabilitation.
• This review serves as a foundational resource for clinicians and researchers dealing with Ollier disease.