Abstract

Dermatofibrosarcoma protuberans (DFSP) is an uncommon locally aggressive neoplasm of the skin. It has a high recurrence rate and minimal metastatic potential. It most commonly presents during early to mid adulthood on the trunk or extremities. It is rarely seen in childhood, and even more rare when present at birth. The incidence of childhood/congenital DFSP may be underestimated as there is often a lengthy delay in diagnosis in this population. The scalp is also an uncommon location for DFSP. We report a case of a 6-year-old female with congenital DFSP. She initially presented at age 3 with an erythematous macule on the vertex of her scalp that had been present since birth. The lesion was flat with well-defined borders and localized sparse hair growth. This was thought to represent a vascular malformation and observation was recommended. She was seen again at age 6 due to intermittent pain of the lesion and proportional growth. A biopsy was taken and due to the complexity of the case, was sent to an outside facility for a second opinion. The histopathologic examination led to the diagnosis of a CD34+ spindle cell proliferation, most consistent with congenital DFSP. DFSPs often present as a violaceous or flesh-colored plaque that may evolve to a nodular lesion over time. In the pediatric population, the appearance of this lesion is often thought to represent a vascular malformation or a benign fibrous or neural lesion. Further genetic testing for a translocation involving chromosomes 17 and 22 is recommended, which may help aid in the diagnosis. Early diagnosis is important to have a better chance of achieving complete surgical resection, to prevent local progression, to decrease the possibility of fibrosarcomatous transformation, and to reduce the size of the scar or need for an extensive reconstruction surgery. We urge clinicians to be aware of this presentation in the pediatric population and to highly consider a biopsy with a persistent and growing skin lesion.

Financial Disclosure:
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