Aggressive fibromatosis of the oral cavity in a 5 year old boy: a rare case report

Aggressive fibromatosis in the head and neck region is not common, and very sporadically occurs in the oral cavity or jaw bones. Here we report a rare case of aggressive fibromatosis occurring in a 5 year old boy.

Desmoid tumor is frequently locally aggressive with frequent recurrence even if without metastatic potential. Breast is an unusual location of this entity, and only a few cases of breast desmoid tumors have been reported. We present a case of a desmoid tumor of the left breast in a 24-years-old woman, with a review of the literature.

Retrospective analysis of 174 patients who had surgical treatment for desmoid-type fibromatosis. The quality of the surgical margins and use of adjuvant radiotherapy or chemotherapy were analysed regarding local recurrences in primary and recurrent disease. A complete primary excision is the best window of opportunity to achieve local control of desmoid-type fibromatosis. Once the disease relapses, surgical intervention is accompanied with a high risk of failure, irrespective of the quality of the margins and adjuvant treatment given.

Desmoid-type fibromatosis is a sarcoma subtype that gathers some singular characteristics, making it a difficult challenge to face in clinical practice. Despite its excellent survival prognosis, these tumors may be unpredictable, ranging from an asymptomatic indolent course to persistent, local, and extended recurrences that significantly impair quality of life. Although surgery was initially considered the first elective treatment, collected published data during the past few years are now pointing to the “wait and see” approach as a reasonable initial strategy because many patients can live a long life with the disease without having symptoms. When symptoms appear or there is a risk of functional impairment, a wide spectrum of therapies (local and systemic) can be useful in improving symptoms and controlling the disease. Because of the low incidence of desmoid-type fibromatosis, there is scarce scientific evidence supporting any specific treatment. Nonetheless, if volumetric responses are needed, chemotherapy may be a reasonable early option. However, if long-term control of disease is desirable, hormonal therapy, NSAIDs, and TKIs are the likely treatments of choice. Recent new findings in the biologic development of these tumors, such as the role of Wnt/β-catenin dependent pathway, have shown that the prognostic information provided by specific CTNNB1 gene mutations and other genetic profiles can lead to better methods of selecting patients as candidates for other approaches. Based on recent research, the Notch pathway inhibition in DF is one of the most promising potential targets to explore. As an orphan disease, it is mandatory that as many patients as possible be included in clinical trials.

The most common pathologies presenting in the abdominal wall are desmoid tumours, soft-tissue sarcoma and dermatofibrosarcoma protuberans (DFSP). Desmoid tumours should be managed with an initial period of observation, with surgery reserved for progressive lesions. Surgery should be the primary treatment for soft-tissue sarcomas and DFSP, with radiotherapy reserved for large-high grade tumours and preferentially given pre-operatively.

Chest desmoid tumors (CDT) are rare lesions characterized by fibroblastic proliferation from the connective tissue. Although CDT have been studied previously, no cases following subfascial transaxillary breast augmentation (TBA) have been described. CDT is an uncommon evolution following TBA. Although it is a rare disease, thoracic and plastic surgeons must be alert to avoid misdiagnosis. Defect reconstruction is necessary, mobilizing the capsular flaps and replacing the implants in order to obtain a satisfactory outcome.