Congenital dermatofibrosarcoma protuberans: variability in presentation.
BACKGROUND
Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark.


METHODS
We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP.


CONCLUSIONS
Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.
Weinstein
Jill M
JM
Department of Pediatric Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Drolet
Beth A
BA
Esterly
Nancy B
NB
Rogers
Maureen
M
Bauer
Bruce S
BS
Wagner
Annette M
AM
Mancini
Anthony J
AJ
D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D018223:Dermatofibrosarcoma / Q000151:congenital* / Q000473:pathology* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D015580:Mohs Surgery; D009364:Neoplasm Recurrence, Local / Q000473:pathology* / Q000601:surgery; D018570:Risk Assessment; D012494:Sampling Studies; D012878:Skin Neoplasms / Q000151:congenital* / Q000473:pathology* / Q000601:surgery; D013514:Surgical Procedures, Operative / Q000379:methods; D016896:Treatment Outcome