Causes of Ollier Disease
As well as enchondromatosis, Ollier disease is a rare, non-hereditary skeletal disorder that causes multiple enchondromas (benign cartilage tumors) to form in the bones. Ollier disease may be caused by somatic mutations in cartilage-forming cells during early development, but its exact cause is not well understood.
Symptoms of Ollier Disease
Ollier disease typically manifests in childhood and may cause the following symptoms:
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Multiple bone tumors: Enchondromas usually affect the long bones of the limbs, causing deformities.
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Asymmetric growth of affected bones, resulting in limb length discrepancies or angular deformities.
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As a result of weakened bone structure around enchondromas, there is an increased risk of bone fractures.
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Swelling and pain: Particularly around joints and bones.
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Tumors can limit joint movement depending on their location and size.
Diagnosis of Ollier Disease
Clinical evaluation and imaging studies are used to diagnose the disease:
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Examination of bone deformities, pain, and functional limitations.
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Imagery used to visualize the presence, size, and distribution of enchondromas within bones.
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An MRI (Magnetic Resonance Imaging) allows a detailed assessment of the extent of tumor involvement and its effects on nearby structures.
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To confirm the diagnosis and rule out other conditions, tissue from suspected enchondromas is removed and examined.
Treatment of Ollier Disease
Ollier disease is treated by managing symptoms and preventing complications in the following ways:
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Surgical intervention may be required to stabilize fractures, correct deformities, or remove symptomatic tumors causing pain or impairing function.
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Follow-up with imaging studies to monitor enchondromas' growth and changes.
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A physical therapist works to improve joint mobility, strengthen muscles, and minimize the effects of bone deformities through exercises and physical interventions.
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Medications and therapies to relieve pain caused by bone tumors and fractures.
Prevention of Ollier Disease
There is no specific preventive measure for Ollier disease, which arises from somatic mutations, but early diagnosis and appropriate treatment can help minimize complications and improve quality of life.
Overview of Ollier disease, including its causes, symptoms, diagnosis, treatment options, and current understanding of prevention.
