Enchondroma: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr NVS Vinay , Orthopedics

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Enchondroma is a benign cartilage tumor that develops within the medullary cavity (bone marrow cavity) of a bone. It most commonly affects the small bones of the hands and feet but can also occur in the long bones of the arms and legs. Many enchondromas cause no symptoms and are discovered incidentally during imaging studies. Larger tumors may weaken the bone, leading to pain, swelling, or pathological fractures. Early diagnosis and appropriate monitoring or treatment are important to preserve bone health, prevent fractures, and distinguish enchondroma from malignant cartilage tumors.

What are the Symptoms of Enchondroma?

Enchondromas are often asymptomatic and discovered incidentally during imaging studies for unrelated issues. However, when symptoms do occur, they may include:

Pain: Persistent, dull pain at the site of the tumor, especially if it is large or causing pressure on surrounding tissues.
Swelling: Visible swelling or a palpable lump over the affected bone.
Fractures: Weakened bones may fracture easily, often with minimal trauma.
Deformities: In cases of multiple enchondromas, bone deformities may develop, affecting the normal growth and function of the bone.

It's crucial to consult a healthcare provider if you experience any of these symptoms, as they can help determine the underlying cause and recommend appropriate treatment.

What are the Causes of Enchondroma?

The exact cause of enchondroma remains unclear. However, it is believed to result from genetic mutations during bone development. These mutations can cause abnormal growth of cartilage cells, leading to the formation of enchondromas.

In most cases, enchondromas are sporadic, meaning they occur without a known family history. However, conditions like Ollier Disease and Maffucci Syndrome have a genetic component and can be inherited.

When to See a Doctor for Enchondroma?

Individuals with persistent bone pain, swelling, deformity, or fractures without significant trauma should consult an Orthopedic or Orthopedic Oncologist for evaluation.

You should see a doctor if you experience:

Persistent localized bone pain
Swelling or deformity of a finger, toe, or limb
Reduced movement or function of the affected area

Seek immediate medical attention if you:

Develop a sudden fracture after minor injury
Experience rapidly worsening pain or swelling
Notice rapid enlargement of the bone lesion or severe functional impairment

These symptoms may indicate a pathological fracture or, rarely, malignant transformation requiring urgent medical evaluation.

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How Is Enchondroma Diagnosed?

Diagnosing enchondroma involves a combination of clinical evaluation, imaging studies, and sometimes biopsy.

Clinical Evaluation

A thorough clinical evaluation includes a detailed medical history and physical examination. The healthcare provider will assess symptoms, family history, and any previous bone-related issues to form a preliminary diagnosis.

Imaging Studies

Imaging studies are essential for confirming the presence of an enchondroma and assessing its characteristics:

X-rays: The primary imaging modality for detecting enchondromas. They can reveal the location, size, and appearance of the tumor.
MRI (Magnetic Resonance Imaging): Provides detailed images of the bone and surrounding soft tissues, helping to assess the extent of the tumor.
CT (Computed Tomography) Scans: Useful for evaluating complex cases or planning surgical interventions.

Biopsy

In some cases, a biopsy may be necessary to confirm the diagnosis. This involves removing a small sample of the tumor tissue for microscopic examination. A biopsy can help differentiate enchondroma fr om other iliac bone lesions, including malignant tumors.

What are the Treatment of Enchondroma?

The treatment of enchondroma depends on several factors, including the size, location, and symptoms of the tumor. In many cases, enchondromas do not require treatment and can be monitored with regular follow-up visits and imaging studies.

Observation

For asymptomatic enchondromas, especially those discovered incidentally, observation is often the preferred approach. Regular monitoring with periodic X-rays or MRI scans helps ensure the tumor remains stable and does not cause complications.

Surgical Intervention

Surgery may be necessary for symptomatic enchondromas or those causing complications. The type of surgical procedure depends on the tumor's location and size:

Curettage: The most common surgical procedure for enchondroma, involving the removal of the tumor tissue from the bone cavity. The cavity is then filled with bone graft or bone cement to provide structural support.
En Bloc Resection: In cases of large or recurrent enchondromas, the entire affected bone segment may be removed and reconstructed with bone grafts or implants.

Post-Surgical Recovery

The recovery time following enchondroma surgery varies based on the procedure and individual factors. Generally, patients can expect a recovery period of several weeks to months. Rehabilitation may include physical therapy to restore strength and function to the affected limb.

Non-Surgical Treatments

For patients who are not candidates for surgery or prefer non-invasive options, other treatments may be considered:

Pain Management: Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) can help manage pain and inflammation.
Bracing: In some cases, bracing may be recommended to support weakened bones and prevent fractures.

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What Is the Recovery Process for Enchondroma?

Recovery from enchondroma depends on the treatment approach and severity of the condition. Regular monitoring and proper care help ensure better outcomes.