Nodular fasciitis of the periorbital soft tissue in an adolescent confirmed by USP6 gene rearrangement

Abstract

Nodular fasciitis is a benign, idiopathic condition that can simulate both benign and malignant neoplasms. In adults, it generally occurs in the subcutaneous or superficial fascia of the trunk or upper extremities; occurrence in the periorbital region is far less common. We describe a case of a 16-year-old male with a 4-month history of a nodular, non-tender, progressively enlarging mass of the superotemporal periorbita. Histopathologic analysis of the excisional biopsy demonstrated nodular fasciitis, confirmed by molecular cytogenetic analysis that showed rearrangement of USP6.

Fig. 1

External examination revealed a subtle enlargement over the left superotemporal orbital rim.

Fig. 2

Orbital CT imaging of nodular fasciitis. A: Axial view shows a contrast-enhancing hyperdense mass in the left superotemporal peri-orbital soft tissue. B: Coronal view shows the mass abutting the lateral rim of the left orbit without osseous erosive changes.

Fig. 3

A: Hematoxylin and Eosin stain showing spindled myofibroblastic cells in a myxoid background intermixed with dense collagenous bundles within the mass 200x B: In some regions, extravasated blood and occasional giant cells (arrows), 400x are identified (B).

Fig. 4

Florescent in-situ hybridization analysis of USP6 (17p13) dual-color break-apart probe shows multiple nuclei with separation of red and green signals. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article.)