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Georges Maire, PhD; Sylvie Fraitag, MD; Louise Galmiche, MD; Frédérique Keslair, BSc; Nathalie Ebran, PhD; Marie-José Terrier-Lacombe, MD; Yves de Prost, MD; Florence Pedeutour, PharmD, PhD

Arch Dermatol. 2007;143(2):203-210.

Background  The diagnosis of dermatofibrosarcoma protuberans (DFSP) in childhood is often difficult because of the deceptive appearance of the lesions. Little is known about congenital DFSP, the frequency of which is probably underestimated because the initial lesion may pass unnoticed.

Observations  We studied 9 DFSP congenital cases (8 plaques and 1 nodule) initially suspected to be benign lesions. The first biopsies or excisions were performed after a delay of 5 months to 15 years. All cases were CD34+. Histologic patterns were similar to the DFSP adult classic pattern in 4 cases. One case was a Bednar tumor. The histologic diagnosis of the 4 remaining cases was difficult. The collagen, type I, 1–platelet-derived growth factor β fusion gene (COL1A1-PDGFB) was detected by means of reverse transcriptase–polymerase chain reaction or fluorescence in situ hybridization.

Conclusions  All cases of congenital DFSP were difficult to identify clinically. The diagnosis was suspected by means of histologic and immunohistochemical evaluation and was confirmed using molecular analyses. This study illustrates the difficulties and pitfalls of the recognition of congenital DFSP and emphasizes the value of immunohistochemical study with anti-CD34 and complementary molecular analysis for all cutaneous spindle cell tumors and plaques in neonates and infants.

Author Affiliations: Faculty of Medicine, Laboratory of Solid Tumors Genetics, Nice University Hospital, and Centre National de la Recherche Scientifique, Unité Mixte de Recherche 6543, Nice (Drs Maire, Ebran, and Pedeutour and Mrs Keslair); Departments of Pathology (Drs Fraitag and Galmiche) and Dermatology (Dr de Prost), Necker-Enfants Malades Hospital, Paris; and Department of Pathology, Gustave Roussy Institute, Villejuif (Dr Terrier-Lacombe), France. Dr Maire is now with Princess Margaret Hospital, Ontario Cancer Institute, Toronto.

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