Bilateral Familial Elastofibroma Dorsi: Is Genetic Abnormality Essential?

Akçam, Tevfik İlker; Çağırıcı, Ufuk; Çakan, Alpaslan; Akın, Haluk

doi:10.1016/j.athoracsur.2014.04.138

Cited by 6 publications

(5 citation statements)

References 5 publications

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“…Akçam et al reported three patients showing significant familial tendency for elastofibroma and suggested that elastofibroma is related to chromosome instability. 15 Nagamine et al reported that one-third of 170 patients had positive family histories; 16 however, none of our cases showed a family history. Hernandez et al found that, in elastofibroma, the DNA sequences of chromosomes 1p, 13p, 19p, and 22p were lost; 17 contrastingly, Nishio et al showed an increased copy number of DNA on the long arm of the X-chromosome, 18 which indicates that fibroelastomas contain genetic alterations.…”

Section: Aetiology and Treatmentcontrasting

confidence: 46%

Retrospective analysis of 73 cases of elastofibroma

Haihua

Xiao-bing

庞杰³

et al. 2020

annals

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Objective Elastofibroma is a rare soft-tissue tumour. This study retrospectively analysed and summarised the clinical, imaging and typical pathological features, together with the short- and long-term surgical outcomes of patients with pathologically confirmed soft-tissue elastofibroma to improve their management. Materials and methods We enrolled 73 patients with pathologically confirmed soft-tissue elastofibroma from January 2010 to December 2018. The general, clinical, diagnostic and treatment-related data, operation notes, pathological examination results and follow-up status were obtained by reviewing inpatient medical records. Disease onset age, sex, tumour location and size were statistically analysed using the chi square and rank sum tests. Results A total of 90 lesions from 73 patients were examined. Among these, 56 patients had single lesions: 27 were under the right scapula, 26 were under the left scapula, 1 at the umbilicus, 1 on the aortic valve, 1 on the right hip and 17 at the bilateral inferior angles of the scapula. The average age at onset was 56.4 years (range: 6–82 years). The male-to-female incidence ratio was about one to three. Tumour diameter and follow-up duration ranged from 2cm to 12cm and from one month to nine years, respectively; recurrence was not observed. The main postoperative complication was wound effusion, occurring in 24 sites among the 90 lesions, corresponding to an incidence rate of 26.7%. Conclusions A correct diagnosis of elastofibroma can be made prior to surgical resection by examining typical clinical features and characteristic imaging findings. Short- and long-term outcomes of local excision are good, with no further recurrence.

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Section: Aetiology and Treatmentcontrasting

confidence: 46%

Retrospective analysis of 73 cases of elastofibroma

Haihua

Xiao-bing

庞杰³

et al. 2020

annals

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“…It has been suggested that elastofibroma originates via a very slow neoplastic process; some studies have shown that a monoclonal proliferation with genomic instability is involved in elastofibroma development [18]. Genetic predisposition is a possible explanation because family history of elastofibroma has been reported in up to one-third of studied cases [5,19]. Elastofibroma has a multifactorial etiology as no single theory has provided an explanation for all cases.…”

Section: Discussionmentioning

confidence: 99%

Concomitant bilateral elastofibroma in the infrascapular and gluteal regions: a report of a rare case

Dandan

Hassan

Muhaish

et al. 2020

BMC Musculoskelet Disord

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Background: Elastofibroma is a benign soft tissue tumor characterized by the presence of elastic fibers in a stroma of collagen and mature adipose tissue. It is reported to have a prevalence of 2.73%, as shown by a study through computed tomography (CT) images. However, multiple elastofibromas are uncommon. Case presentation: We report a case of concomitant bilateral elastofibroma in the infrascapular and gluteal regions. A 63-year-old male patient presented with a 6-month history of gradually increasing painless swellings in the upper back. On physical examination, firm, painless bilateral infrascapular masses were identified; these masses were more noticeable on forward arm flexion. Contrast-enhanced computed tomography showed well-defined bilateral infrascapular masses deep to the serratus anterior muscles as well as poorly defined bilateral gluteal masses with attenuation similar to that of the adjacent skeletal muscle. Magnetic resonance imaging revealed heterogenous masses with internal fatty streaks, consistent with elastofibroma. The histopathological diagnosis of elastofibroma was established based on the results of image-guided core-needle biopsy. The patient underwent surgical excision of both infrascapular elastofibromas with no post-operative complications. As the gluteal masses were incidental, surgical management was not warranted. Conclusion: The presence of multiple elastofibromas is unusual. This report describes a rare case of multiple elastofibromas and its typical imaging features, and alerts us that elastofibromas are not exclusive to the periscapular region.

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“…Postoperative prognosis is good and recurrence rate is very low. 6 Since EFD is a rare pathology, there are no clear data on its pathogenesis. Available reports present single or a small number of cases.…”

Section: Discussionmentioning

confidence: 99%

Possible Relationship Between Bilateral Elastofibroma Dorsi and Hypermastia

et al. 2017

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Elastofibroma dorsi (EFD) is a rare, benign, soft tissue tumor with an unclear pathogenesis, typically localized to the subscapular region. It occurs within the periscapular area between the ribs and dorsal chest wall muscles. Repetitive microtrauma by friction between the lower part of the scapula and the thoracic wall may cause reactive hyperproliferation of the fibroblastic tissue. This view has been supported by the higher prevalence of EFD, particularly among individuals who perform hard manual labor. EFD can, however, also be observed in those who have never performed hard manual labor and particularly in women over the age of 50. In this report, we present a case of bilateral EFD in a 52-year old woman with bilateral hypermastia, and examine the possible correlation between hypermastia and EFD.

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Bilateral Familial Elastofibroma Dorsi: Is Genetic Abnormality Essential?

Cited by 6 publications

References 5 publications

Retrospective analysis of 73 cases of elastofibroma

Retrospective analysis of 73 cases of elastofibroma

Concomitant bilateral elastofibroma in the infrascapular and gluteal regions: a report of a rare case

Possible Relationship Between Bilateral Elastofibroma Dorsi and Hypermastia

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