Bilateral familial elastofibroma dorsi: is genetic abnormality essential?

Abstract

Elastofibroma dorsi is a rare, slowly growing, benign soft tissue tumor located in the periscapular region on the chest wall. Although it is generally unilateral, it may be bilateral in 10% of cases. The tumor is located between the costa and the chest wall muscles. The patients generally describe back and shoulder pain that increases with movement. Three sisters, aged 58, 61, and 63 years, who were admitted to our clinic with of bilateral swelling and pain in the infrascapular region, received diagnoses of elastofibroma dorsi after radiologic examination. Bilateral elastofibroma dorsi resection was performed on the three sisters. Inasmuch as cases of elstofibroma dorsi demonstrate familial features, a genetic examination was conducted; however, prominent chromosomal instability was not detected. It is emphasized that the disease might be familial; however, chromosomal changes may not be present.