Elastofibroma - Causes, Symptoms, Diagnosis, and Treatment

Introduction:

Elastofibroma is a connective tissue tumor that is often found in the subscapular region of elderly women. This tumor is often found on both sides of the thoracic wall, i.,e bilateral presentation. According to the World Health Organization (WHO) 2020, elastofibroma is classified under a group of tumors known as fibroblastic and myofibroblastic tumors. Due to its distinctive location, constant friction and microtrauma occur between the scapula and thoracic wall. This friction is supposed to be the reason for the reactive hyperproliferation of fibroelastic tissue. It is commonly found in females between the ages of 50 to 70 years. It is generally asymptomatic and does not show itself until it is grown five to ten centimeters in size. Since it is very rarely occurring, only a few reports have been reported regarding its course and outcome. Elastofibroma is often mistaken for soft tissue sarcoma due to the size of the tumor and its tendency to occur in the elderly population.

What Is the Cause of Elastofibroma?

Though the exact cause of elastofibroma is not yet known, a few reasons that are responsible for elastofibroma are genetic predisposition, frequent trauma or friction, and systemic enzymatic defect causing elastogenesis. The pathogenesis of elastofibroma is still unsolved and open to controversy. Chronic and repetitive mechanical stress leads to microtrauma, causing excessive elastin production. Elastofibroma is also found to develop in men who perform heavy manual labor that involves shoulder girdle. This leads to constant mechanical friction between the scapula and ribs, which is believed to induce the excess formation of elastic fibers. In a few cases, researchers have observed reactive fibromatosis and secondary degeneration of elastic fibers due to reduced vascular supply.

What Are the Signs and Symptoms of Elastofibroma?

In most cases, elastofibroma remains asymptomatic. The signs and symptoms of elastofibroma are described below:

• Firm and Mobile Mass: It presents itself as a large, well-circumscribed mass that is not attached to the overlying skin. It is deep-seated, rubbery, and firm growth that causes pain or discomfort occasionally. It often develops bilaterally.

• Painless Mass: The condition is often characterized by the presence of painless and slow-growing mass.

• Asymptomatic: In several cases, the condition is asymptomatic. Some people may not experience any pain and discomfort. Some people experience mild discomfort.

• Deep Breathing Discomfort: Though rare, symptoms may include mild pain and clunking of the scapula during shoulder movement. This benign growth may grow up to the size of 2 to 15 cm. Variations in symptoms depend upon the size and location of elastofibroma. Elastofibroma may cause stiffness in shoulder abduction, clunking sensation or scapular swelling during movement, and painful scapula.

Elastofibroma is also found in some rare locations like the deltoid (muscle covering the shoulder joint) muscle, ischial tuberosity (a bone that makes the bottom of the pelvis), and greater trochanter (a part of the hip joint), thoracic wall, stomach, orbit, and oral mucosa.

How Is Elastofibroma Diagnosed?

Imaging studies and biopsies are necessary to diagnose elastofibroma. The elastofibroma can be diagnosed by the following methods.

• Physical Examination: Physical examination of elastofibroma reveals a firm, movable rubbery mass that is often painless.

• Radiological Examinations: These include magnetic resonance imaging(MRI), ultrasound(US), and computed tomography (CT). Elastofibroma has a typical sonographic appearance. Its characteristic location and specific imaging appearance help in arriving at an accurate diagnosis. Computed tomography gives a clearer picture that helps in determining the size of elastofibroma. F-18 fluorodeoxyglucose positron emission tomography is also beneficial in diagnosing elastofibroma.

• Biopsy: Biopsy makes it possible to study the cytopathology of tumor mass. Mostly, surgical excision is followed to collect the specimen from the site of the lesion. Surgical excision involves the removal of the entire tumor mass along with surrounding healthy tissue. This is performed under general anesthesia.

What Is the Treatment for Elastofibroma?

A simple surgical excision is performed to remove the tumor mass. In most cases, elastofibroma remains asymptomatic and does not need any treatment. After a thorough examination, the doctor may advise to just observe for any changes and that treatment is not necessary. In a few cases, patients are provided with an option of whether to get it treated. Unless it is symptomatic, elastofibroma is left untreated. If elastofibroma is symptomatic, doctors shall consider it as an active lesion that requires treatment. Marginal excision can be performed in such cases.

What Are the Complications With Elastofibroma?

There are no major complications with elastofibroma. Seroma or hematoma are reported in a few cases. Post-surgical drainage and compression bandages are performed to prevent complications. The complications include compression to the surrounding structures, as elastofibroma grows. In some cases, there is a small risk of recurrence.

What Is the Differential Diagnosis of Elastofibroma?

The diagnosis of elastofibroma is challenging because the tumor might be confused with other soft tissue pathologies. This can lead to delays in diagnosis and treatment. Elastofibroma is similar to other soft tissue tumors. The differential diagnosis of elastofibroma is described below:

• Spindle-cell lipoma (painless, soft, and movable tumor).

• Fibromatosis Colli (non-cancerous tumor).

• Soft-tissue sarcoma (cancerous tumors of connective tissue present as palpable mass).

• Fibrosarcoma (cancerous tumor of fibrous connective tissue).

• Neurofibroma (tumors of nerves present as soft tissue masses).

• Desmoid tumor (aggressive tumor of fibrous tissue present as a palpable mass).

• Hematoma (blood vessel collection).

• Ganglion cyst (non-cancerous lumps near joints).

• Metastatic lesions (soft tissue masses).

What Is the Prognosis for Elastofibroma?

It has an extremely low recurrence rate with an excellent prognosis. The prognosis of elastofibroma is based on various factors including the tumor size, its location, patient health, and associated symptoms. Regular follow-up appointments are essential to monitor the tumor characteristics and to address any complications.

Conclusion:

Elastofibroma is a distinctive benign subcapsular lesion that has very few chances of malignant transformation. It is not a life-threatening condition. It grows very slowly and can grow up to the size of 20 cm. Although the condition is asymptomatic, sometimes the person may experience pain and discomfort. Complete surgical excision is necessary to cure the condition. The recurrence is uncommon after successful surgical removal of the tumor. The person may consult with the healthcare provider to know the clinical presentation and treatment of the condition.