Dermatofibrosarcoma Protuberans; Case Report in a Pediatric Patient

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare and locally aggressive mesenchymal neoplasm arising from the dermal and subcutaneous tissues. It typically manifests as a slow-growing, firm, protuberant or plaque-like lesion on the skin. DFSP predominantly affects young to middle-aged adults, with a slight predilection for females. This tumor exhibits a distinctive infiltrative growth pattern, characterized by tumor cells invading the surrounding tissues, including the deep subcutaneous layers and the underlying fascia. Histopathologically, DFSP presents characteristic features, such as the presence of spindle-shaped tumor cells arranged in a "storiform" pattern, as well as the presence of a prominent "honeycomb" appearance due to the presence of multinucleated giant cells. Immunohistochemical staining is essential to confirm the diagnosis, with positivity for CD34 being a hallmark of DFSP. Although DFSP rarely metastasizes, its extensive local invasion and high recurrence rate necessitate a wide surgical excision with clear margins as the mainstay of treatment. The use of Mohs micrographic surgery or adjuvant radiation therapy has demonstrated favorable outcomes in cases with challenging anatomical locations or microscopically positive margins. Imatinib mesylate, a tyrosine kinase inhibitor, has also emerged as a promising systemic therapy for advanced or unresectable DFSP, particularly cases with the COL1A1-PDGFB gene fusion, which represents the molecular hallmark of DFSP. Early diagnosis and appropriate management are crucial to achieving optimal outcomes in DFSP. This article provides a comprehensive review of the clinical, histopathological, and molecular aspects of DFSP, highlighting the significance of a multidisciplinary approach to ensure accurate diagnosis and tailored therapeutic strategies for patients affected by this rare dermatological neoplasm.