Orbital Desmoid-Type Fibromatosis: A Case Report and Literature Review

Abstract

.Purpose. Desmoid-type fibromatosis is a benign fibrous neoplasia originating from connective tissue, fascial planes, and musculoaponeurotic structures of the muscles. Currently, there is no evidence-based treatment approach available for desmoid fibromatosis. In this article, a case of a patient in the pediatric age affected by desmoid fibromatosis localized in the orbit is presented. e aim of the article is to describe this unusual and rare location for the desmoid fibromatosis and outline the principle phases in the decision-making process and the therapeutic alternatives for a patient affected by desmoid fibromatosis. Methods. e protocol of this review included study objectives, search strategy, and selection criteria. e primary end point of this study was to analyze the head and neck desmoid fibromatosis. e secondary end point was to identify the available therapies and assess their specific indications. Results. e mean age of patients was 18.9 years ranging from 0 to 66, and 52% were female. A bimodal age distribution was observed, and two age peaks were identified: 0-14 years (57%) and 28-42 years (18%). e most common involved areas were the mandible (25%) followed by the neck (21%). In 86% of the cases, the treatment was the surgical resection of the disease, and only in 5% of the cases, the surgical resection was followed by adjuvant radiotherapy. Conclusion. e orbital location is extremely rare, especially in the pediatric population. e management of desmoid fibromatosis is based on the function preservation and the maintenance of a good quality of life, but in case of symptomatic patients or aggressive course of the disease or risk of functional damages, the surgical approach may be considered. erapeutic alternatives to surgical resection are radiotherapy and systemic therapy.

Novel Diagnosis of the Diffuse Variant of Infantile Orbital Fibromatosis

“…IOF is a rare, fibrotic, spindle cell infiltrative disease that can involve the extraocular muscles and periorbital tissue and is characterized by a spectrum of clinical findings, neuroimaging, and pathology. This disease has been described in 5 female and 3 male children less than 4 years old, all of whom demonstrated a locally aggressive, focal tumor with infiltration of the orbit and muscles, consistent with the desmoid subtype variant of IOF (1–4). In the desmoid type, dysregulation of the Wnt pathway leads to increased beta-catenin and upregulation of downstream transcription factors, resulting in diffuse beta-catenin staining microscopically and fibrosis macroscopically (5).…”

“…In the desmoid type, dysregulation of the Wnt pathway leads to increased beta-catenin and upregulation of downstream transcription factors, resulting in diffuse beta-catenin staining microscopically and fibrosis macroscopically (5). Multiple etiologies have been proposed, including estrogen receptor dysregulation, genetic predisposition, and trauma (3). Practice patterns have shifted from resection to observation of IOF tumors given their low proliferation potential, morbidity of surgery, and the recurrence rate.…”

Treatment of Orbital Desmoid-type Fibromatosis With Sorafenib

“…To the authors’ knowledge, there are fewer than 10 case reports of pediatric DF with orbital involvement in the literature. 3–6 The majority of reported DF cases involving the orbit have been treated primarily with surgical excision. However, DF treated with surgery has been shown to be followed by high recurrence rates, despite partial or complete excision.…”

Intraoral Aggressive Fibromatosis: Current Management and Presentation of a Case

“…Magnetic resonance imaging (MRI) is the imaging inhabitants / year, being more frequent in women (ratio 3:1). Although they can occur at any age [3], they have two incidence peaks, one at 4-5 years old and another between 15 and 35 years old. Desmoid tumours typically appear in the postpartum period, in the anterior rectus muscle of the abdomen and in scars from previous surgeries, but they can appear in any muscle of the body, being also frequent in the limbs and the mesentery.…”

“…Together they represent less than 3% of all fibromatous soft tissue neoplasms, and only 7-15% occur in the head and neck [4]. They are classified as sporadic or associated with hereditary syndromes; they can also be classified depending or their location, as superficial or deep tumours [3,5].…”