Elastofibroma dorsi

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ORPHA:228243L98.8
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1Active trials8Treatment centers

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Overview

Elastofibroma dorsi is a rare, benign soft tissue pseudotumor characterized by the slow-growing accumulation of abnormal elastic fibers and fibrous tissue. It typically develops in the subscapular region, between the lower scapula and the chest wall, most commonly on the right side, though bilateral involvement occurs in a significant proportion of cases. The mass is composed of degenerated elastic fibers interspersed with collagen and mature adipose tissue. Elastofibroma dorsi predominantly affects older adults, particularly women over the age of 55, and is thought to arise from reactive mechanical friction between the scapula and the thoracic wall rather than being a true neoplasm. Many patients are asymptomatic, with the mass discovered incidentally on imaging studies such as CT or MRI performed for other reasons. When symptomatic, patients may experience a palpable swelling or mass beneath the scapula, mild to moderate pain, a sensation of heaviness, and occasionally a snapping or clunking sensation during shoulder movement. The condition primarily affects the musculoskeletal and connective tissue systems. Diagnosis is often made clinically and confirmed by characteristic imaging findings, though biopsy may be performed to exclude malignant soft tissue tumors. Treatment is generally conservative for asymptomatic cases, with observation and reassurance being appropriate. For patients who experience significant pain or functional limitation, surgical excision (marginal resection) is the standard treatment and is usually curative, with low recurrence rates. The etiology remains incompletely understood, though repeated mechanical stress and possible genetic predisposition have been proposed as contributing factors. Some familial clustering has been reported, suggesting a possible hereditary component in certain cases.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Late onset

Begins later in life, typically after age 50

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Jan 2010Elastofibroma Dorsi: Clinical Features, Surgical Outcomes, and Risk Factors

Ondokuz Mayıs University

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Elastofibroma dorsi.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

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Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Elastofibroma Dorsi: Clinical Features, Surgical Outcomes, and Risk Factors
Active
· Age: 1899 yrs

No specialists are currently listed for Elastofibroma dorsi.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏨 Children's

Children's Hospital Colorado Rare Disease Program

Children's Hospital Colorado

📍 Aurora, CO

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Boston Children's Hospital Rare Disease Program

Boston Children's Hospital

📍 Boston, MA

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

🏨 Children's

Ann & Robert H. Lurie Children's Hospital Genetics

Lurie Children's Hospital

📍 Chicago, IL

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

Cincinnati Children's Hospital Medical Center

Cincinnati Children's

📍 Cincinnati, OH

👤 Boston Children's Hospital Rare Disease Program

🏨 Children's

Nationwide Children's Hospital Rare Disease Center

Nationwide Children's Hospital

📍 Columbus, OH

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Elastofibroma dorsi.

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Common questions about Elastofibroma dorsi

What is Elastofibroma dorsi?

Elastofibroma dorsi is a rare, benign soft tissue pseudotumor characterized by the slow-growing accumulation of abnormal elastic fibers and fibrous tissue. It typically develops in the subscapular region, between the lower scapula and the chest wall, most commonly on the right side, though bilateral involvement occurs in a significant proportion of cases. The mass is composed of degenerated elastic fibers interspersed with collagen and mature adipose tissue. Elastofibroma dorsi predominantly affects older adults, particularly women over the age of 55, and is thought to arise from reactive mech

How is Elastofibroma dorsi inherited?

Elastofibroma dorsi follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Elastofibroma dorsi typically begin?

Typical onset of Elastofibroma dorsi is late onset. Age of onset can vary across affected individuals.

Are there clinical trials for Elastofibroma dorsi?

Yes — 1 recruiting clinical trial is currently listed for Elastofibroma dorsi on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.