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

Sandro Pelo,Paolo De Angelis,Alessandro Moro,Umberto Garagiola,Giulio Gasparini,Gianmarco Saponaro,Giuseppe D’Amato,Gianluigi Petrone,Emanuela Lucci Cordisco

doi:10.1155/2018/1684763

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. The 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 The protocol of this review included study objectives, search strategy, and selection criteria. The primary end point of this study was to analyze the head and neck desmoid fibromatosis. The secondary end point was to identify the available therapies and assess their specific indications. Results The 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%). The 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 The orbital location is extremely rare, especially in the pediatric population. The 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. Therapeutic alternatives to surgical resection are radiotherapy and systemic therapy.

Highlights

Desmoid-type fibromatosis is a benign fibrous neoplasia originating from connective tissue, fascial planes, and musculoaponeurotic structures of the muscles [1]. is tumor is not capsulated and usually infiltrates along fascial planes and invades adjacent neurovascular structures [2]
In 1832, McFarlane was the first to describe a case, and six years later, Muller coined the term “desmoid tumor,” derived from desmos which means tendon-like in Greek [3, 4]. is tumor is extremely rare, and the incidence of desmoid fibromatosis is 2 to 4 per 1 million per year with a female-to-male ratio of 3 to 1 [5,6,7,8]; it represents less than 3% of all soft tissue sarcomas [9]. e disease can be divided into two groups because desmoid fibromatosis can be sporadic or associated with a hereditary syndrome
There is a genetic predisposition [8]. e incidence of desmoid fibromatosis is remarkably higher in patients affected by familial adenomatous polyposis and Gardner syndrome [10]

Summary

Introduction

Desmoid-type fibromatosis is a benign fibrous neoplasia originating from connective tissue, fascial planes, and musculoaponeurotic structures of the muscles [1]. is tumor is not capsulated and usually infiltrates along fascial planes and invades adjacent neurovascular structures [2]. E disease can be divided into two groups because desmoid fibromatosis can be sporadic or associated with a hereditary syndrome In both groups, there is a genetic predisposition [8]. E incidence of desmoid fibromatosis is remarkably higher in patients affected by familial adenomatous polyposis and Gardner syndrome [10]. In these cases, the disease is usually intra-abdominal. Another described hereditary syndrome involved is the autosomaldominant inheritance of familial infiltrative fibromatosis [11]. In the familial adenomatous polyposis, Gardner syndrome, and familial infiltrative fibromatosis, Case Reports in Oncological Medicine lesions are associated with the inactivation of the APC tumor suppressor [6, 12]. Other nonsurgical approaches have been introduced as a primary approach in case of inoperable patients or as adjuvant therapy, both with variable results [17, 19, 20]

Results

Discussion

Conclusion