Congenital Dermatofibrosarcoma Protuberans

Pediatric Dermatology Vol. 10 No. 1 40-42

Congenital Dermatofibrosarcoma Protuberans Giorgio Aimessi, M.D., Augusto Cimitan, M.D., Giampiero Girolomoni, M.D., and Alberto Giannetti, M.D. Department of Dermatology, University of Modena, Modena, Italy

Abstract: Congenitai dermatofibrosarcoma protuberans occurred in a 16-year-old girl. The lesion was a hard cutaneous plaque on the abdomen, it was present at birth and siowly eniarged during the patient's lifetime. Histoiogic examination was essential to establish the diagnosis and to differentiate it from other congenitai fibrohistiocytic proliferations.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon fibrohistiocytic tumor of intermediate malignancy that usually occurs in early to middle adult life (1); however, cases have been reported in childhood. Congenital DFSP represents a rare event (1-6). CASE REPORT A 16-year-old girl consulted us for a firm, asymptomatic, cutaneous plaque on the left periumbilical region. Physical examination revealed an irregularly round to oval, red-violaceous plaque, 3 x 4 cm, with a slightly depressed surface (Fig. 1). The lesion was hard and fixed to the overlying skin but was movable over the deeper tissue. It was present at birth (documented in the birth record) and slowly and progressively enlarged over the years. It had been removed surgically, without including adequate margins of healthy tissue. A biopsy specimen showed a dense cellular proliferation diffusely infiltrating the dermis and subcutis (Fig. 2). The lesion was composed of a uniform population of cells with large, oval or spindleshaped nuclei mainly arranged in short intertwining bundles, thus creating a typical storiform pattern Address correspondence to G. Girolomoni, M.D., Clinica Dennatologica, Universita di Modena, Via del Pozzo 71, 41100 Modena, Italy.

40

(Fig. 3). In the subcutis, the tumor spread along connective tissue septa and infiltrated the subcutaneous fat, imparting a honeycomb appearance. Cells displayed little nuclear pleomorphism and low mitotic activity. There were no giant, xanthomatous, or inflammatory cells. A diagnosis of congenital dermatofibrosarcoma protuberans was made. The patient had no regional lymphoadenopathy, and a total-body computerized tomographic scan was negative. A new surgical excision was performed, removing 3 cm of tissue around the scar of the first operation and deep fascia. After follow-up of one year there has been no sign of local recurrence. DISCUSSION DFSP is considered a fibrohistiocytic tumor of intermediate malignancy because of a high rate of local recurrence and low metastatic potential (1,5,711). The initial lesion usually consists of a flattened or atrophic, pale plaque, sometimes surrounded by a red-bluish discoloration (5). Histologically, the plaque stage is characterized by a dense, uniform proliferation of fibrohistiocytic cells at the dermalsubctitaneous junction. Cells are arranged in a sto-

Annessi et al: Congenital Dermatofibrosarcoma Protuberans 41

Figure 1. Round to oval, red-vioiaceous cutaneous plaque with a depressed surface on the abdomen. riform pattern in the reticular dermis, and infiltrate the subcutaneous tissue both along septa and within fat lobules (1). After a variable period of time, the fibrohistiocytic proliferation may extend focaily both in the upper dermis and deep subcutaneous tissue. Clinically, this late stage is characterized by the development of one or more nodules on the plaque surface, giving rise to the typical protuberant appearance. The plaque may attain large dimension and have several satellite nodules. Although it may occur at almost any site, the majority are localized on the trunk and extremities (1,7,8). Usually DFSP appears in the early or midadult years and is considered uncommon in infants and children. There are only a few reports of congenital DFSP in the literature (2,3,5,6); a recent study.

Figure 2. Dense cellular proiiferation Invading the dermis and subcutis. The extension of neoplastic cells into fat lobules imparts a honeycomb appearance to the subcutaneous tissue. (Hematoxyiin & eosin; magnification 13x.)

Figyre 3. Uniform population of spindle-shaped fibrohistiocytic cells arranged in a storiform pattern. (IHematoxylin & eosin; magnification 200x.) however, suggested that some childhood or congenital cases might have been mistaken for unclassified sarcoma or fibromatosis (3). The clinicohistologic aspects and clinical behavior of congenital DFSP are comparable to those of the tumor in adults (2,3). Considering its slow evolution, the congenital or childhood disorder is often represented by a fibrotic plaque rather than a mtiltinodular lesion (2,3). In our patient the ttimor remained in the plaque stage for her lifetime, progressively increasing in size but not developing a nodular transformation, and thus showing a low level of malignancy. Congenital DFSP must be differentiated from other forms of congenital fibrohistiocytic proliferations. Fibrous hamartoma of infancy (FHI) (12), the solitary form of infantile myofibromatosis (IM) (13,14), and infantile (desmoid type) fibromatosis (IF) (15) may all appear at birth as nodules or plaques, specifically localized in the dermis (FHI, IM), subcutaneous tissue (FHI, IM), fascia (IF), or skeletal muscle (IM, IF). Similarly, they are all prone to enlarge progressively in a slow or rapid fashion. Histologically, the finding of an organoid pattern in FHI, the presence of myofibroblastic cells in IM, and the depth of the lesion and lack of storiform pattern in IF allow easy differentiation from DFSP (15). Giant cell fibroblastoma is a recently described fibrohistiocytic ttimor of children and young adults that some authors consider to be clinically and microscopically related to DFSP (16). To our knowledge there are no reports of congenital giant cell fibroblastoma. Histologically, DFSP also may be confused with a diffuse netirofibroma. The presence in the latter of S-100-positive cells affords difTerentiation (3). The high recurrence rate of DFSP reflects its extensive infiltrating growth. Despite locally aggres-

42 Pediatric Dennatology Vol. 10 No. 1 March 1993

sive behavior, this neoplasm rarely metastasizes, and then only after several recurrences and years after the diagnosis (7,9-11). Treatment is essentially surgical, and recurrences depend on the extent of excision. A wide excision that includes a margin of at least 3 cm of healthy tissue and the underlying deep fascia is recommended (7,17). In conclusion, DSFP is rarely present at birth. Early diagnosis and differentiation from other congenital fibrohistiocytic proliferations are necessary to ensure appropriate treatment and prevent both local and systemic invasion. REFERENCES 1. Enzinger FM, Weiss SW. Fibrohistiocytic tumors of intermediate tnalignancy. In: Enzinger FM, Weiss SW, eds. Soft tissue tumors. St Louis: CV Mosby, 1988:252-268. 2. Metz G. Dermatofibrosarcoma protuberans in Kindersalter. Hautarzt 1978;29:435-^38. 3. McKee PH, Fletcher CDM. Dermatofibrosarcoma protuberans presenting in infancy and childhood. J Cutan Pathol 1991;18:241-246. 4. David MMV, Preux J. Dermatofibrosarcome de Darier-Ferrand chez l'enfant. Bull Soc Fr Dennatol Syph 1968;75:187-188. 5. Taylor HB, Helwig EB. Dermatofibrosarcoma protuberans: a study of 115 cases. Cancer 1962;i5:7S7725. 6. Pack GT, Tabah EJ. Dermatofibrosarcoma protuberans, a report of 39 cases. Arch Surg 1951 ;62:391-411.

7. McPeak CJ, Cruz T, Nicastri AD. Dermatofibrosarcoma protuberans: an analysis of 86 cases—^five with metastasis. Ann Surg 1967;166(suppi 12):8O3-816. 8. Burkhardt BR, Soule EH, Winkelmann RK. Dennatofibrosarcoma protuberans: study of 56 cases. Am J Surg 1966;111:638-644. 9. Petoin DS, Verola O, BMzet P, Dufourmentel C, Servant JM. Dermatofibrosarcome de Darier et Ferrand: etude de % cas sur 15 ans. Chinirgie 1985;111: 132-138. 10. Brenner W, Schaefiler K, Chhabra H. Dermatofibrosarcoma protuberans metastatic to a regional lymph node. Cancer 1975;36:1887-I902. 11. Kahn LB, Saxe N, Gordon W. Dermatofibrosarcoma protuberans with lymph node and pulmonary metastases. Arch Dennatol 1978;114:599-^1. 12. Enzinger FM. Fibrous hamartoma of infancy. Cancer 1965;18:24!-248. 13. Chung EB, Enzinger FM. Infantile myofibromatosis. A review of 59 cases with localized and generalized involvement. Cancer 1981 ;48:1807-1818. 14. Parker RK, MaUory SB, Baker GF. Infantile myofibromatosis. Pediatr Dennatol 1991 ;8:129^132. 15. Enzinger FM, Weiss SW. Fibrous proliferations of infancy and childhood. In: Enzinger FM, Weiss SW, eds. Soft tissue tumors. St. Louis: CV Mosby, 1988; 164-200. 16. Shmookler BM, Enzinger FM, Weiss SW. Giant cell fibroblastoma—a juvenile form of dermatofibrosarcoma protuberans. Cancer 1989;64:2154-2161. 17. Roses DF, Valensi Q, Latrenta G, Harris MN. Surgical treatment of dermatofibrosarcoma protuberans. Surg Gynecol Obstet 1986;162:449-452.