Dermatofibrosarcoma protuberans in pediatric patients: a report of 17 cases.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor. In children, there are acquired and congenital presentations. Due to clinical similarities with other conditions, diagnosis may be delayed. OBJECTIVE: To review the clinical characteristics and treatment of DFSP in pediatric patients. METHODS: A retrospective chart review was performed from January 2002 to September 2012. Inclusion criteria were patients under 18 years of age with a histopathologic diagnosis of DFSP. Data on demographics, clinical characteristics, treatments, and outcomes were collected. RESULTS: Information was gathered from 17 patients; 9 (53%) were female. Congenital lesions were reported in 7 patients. The mean delay of diagnosis was 5.7 years; the most common anatomic location was the trunk in 8 of 17 (47%) cases. Treatment options included wide local surgery, Mohs surgery, and imatinib mesylate. CONCLUSION: A detailed medical history and identification of the natural course of common conditions seen in pediatric patients are important to identify less common lesions and to suspect DFSP.

Dermatofibrosarcoma protuberans atrófico congénito: descripción de un caso y revisión de la literatura / Congenital atrophic dermatofibrosarcoma protuberans: a case report and literature review

El dermatofibrosarcoma protuberans (DFSP) atrófico congénito es un tumor extremadamente poco frecuente, con contados reportes en la literatura mundial. Habitualmente el diagnóstico se demora años y se confunde con diversas marcas de nacimiento o con otras lesiones que cursan con atrofia cutánea. El comportamiento biológico sería, sin embargo, similar al de las otras formas de DFSP que se presentan en el niño y en el adulto, con alto riesgo de recurrencia tras la resección tumoral, por lo cual es importante conocer el aspecto para sospechar el diagnóstico. El estudio histopatológico se debe complementar con la inmunotinción con CD34, un marcador de utilidad no solo para aclarar el diagnóstico, sino también para guiar el tratamiento en la Cirugía de Mohs, que es en la actualidad el tratamiento de elección. La patogenia del DFSP se relacionaría con una mutación genética que provocaría una sobreproducción del factor de crecimiento derivado de las plaquetas que llevaría a un crecimiento celular maligno estimulado autocrinamente. El principal diagnóstico diferencial del DFSP atrófico congénito, tanto clínico como histopatológico, es el hamartoma dendrocítico dérmico tipo medallón, tumor congénito benigno descrito el año 2004. Presentamos el caso de un niño a quien se le diagnosticó un DFSP atrófico congénito a los 13 años de edad, después de haber sido reiteradamente interpretado como una lesión sin importancia. En este caso, se realizó resección con márgenes amplios, porque la ubicación anatómica lo permitía. En el control a los 18 meses después del tratamiento, el paciente no ha presentado recurrencias.

Congenital atrophic dermatofibrosarcoma protuberans is an extremely rare tumor, with few reports in world literature. Usually the diagnosis take a lot of years and get confused with many birthmarks or other lesions that present with cutaneous atrophy. However, the biological behavior would be similar to other forms of dermatofibrosarcoma protuberans (DFSP) shown in children and adults, with high risk of recurrence after surgical resection, that is why is so important to know the aspect to suspect the diagnosis. The histopathological study is complemented by the CD34 inmuno staining, used to clarify the diagnosis and to guide the treatment in Mohs micrographic surgery, which is currently the treatment of choice. The pathogenesis of DFSP would be related to a genetic mutation that induce an overproduction of platelet-derived growth factor that would lead to autocrine-stimulated malignant cell growth. The main differential diagnosis, clinical and histological, is the medallion-like dermal dendrocyte hamartoma, a congenital tumor first described in 2004. We report the case of a child who was diagnosed with a congenital atrophic dermatofibrosarcoma protuberans at the age of 13, after been repeatedly interpreted as a lesion without any importance. In this case, a resection with wide margins was made, because the anatomical location allowed it. The patient has not shown any recurrence of the tumor after 18 months of treatment.

Congenital myxoid and pigmented dermatofibrosarcoma protuberans: a case report.

Dermatofibrosarcoma protuberans (DFSP) is a low-grade, mesenchymal, spindle cell tumor. In addition to the classical form characterized by a storiform pattern of tumor cells, pigmented (Bednar's tumor) and myxoid variants can be observed. Classical DFSP and Bednar's tumor are easily diagnosed. The myxoid variant represents a diagnostic challenge. Pigmented and myxoid variants are rare and thus far have never been reported in association in congenital DFSP. We came across a unique DFSP that was, at the same time, congenital, pigmented, and myxoid. The tumor was surgically excised with broad free margins and no recurrence. The differential diagnosis with other entities such as giant cell fibroblastoma, CD34-positive plaque-like dermal fibroma, superficial plaque-like CD34 DFSP, and neurocristic hamartoma is discussed. The recognition of this hybrid variant of congenital DFSP is important to avoid under- or overtreatment.

Vascular congenital dermatofibrosarcoma protuberans: a new histological variant of dermatofibrosarcoma protuberans.

We describe a case of congenital dermatofibrosarcoma protuberans (DFSP) that masqueraded as a vascular tumor both clinically and histologically. Based on the infiltrative growth pattern, presence of capillary-sized vessels, and spindle cell areas with slit-like vascular spaces and numerous thin-walled vessels at the periphery of the tumor, a kaposiform hemangioendothelioma was initially diagnosed. Strong diffuse CD34 positivity and the extension into the subcutaneous fat with a sieve-like effect prompted the fluorescence in situ hybridization analysis, which demonstrated a reciprocal t(17;22) translocation. According to our knowledge, this is the first report of a vascular histological variant of DFSP. This unique variant represents a potential pitfall for dermatopathologists and underlines the importance of cytogenetic diagnostics in unusual cases of DFSP.

Congenital dermatofibrosarcoma protuberans.

Congenital dermatofibrosarcoma protuberans (DFSP) is a rare dermal and subcutaneous neoplasm of low-grade malignant behavior that is characterized by a low frequency of metastases with locally invasive growth. Its occurrence at birth and during childhood is rare. We present a case of a patient who was born with a light brown macule on his right buttock that was misdiagnosed as localized scleroderma. The lesion progressed into reddish atrophic plaques and nodules extending to the iliac region and the gluteal fold. At 5 years of age, a diagnosis of congenital DFSP was made based on clinical and immunohistochemical characteristics (CD34 positivity and spindle cell proliferation). Although there was a delay in diagnosis, a 3-step excision was proposed with a final step of Mohs micrographic surgery (MMS).

Unusual and recently described cutaneous atrophic disorders.

Cutaneous atrophic conditions are typically caused by changes in the dermis or subcutaneous tissue, sometimes consisting of the loss of a single fiber type. Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not be appreciated as atrophy in the clinical setting. Clinicians should be familiar with the common or classic disorders causing cutaneous atrophy; however, there are a few new or rarely described atrophic conditions which are more difficult to identify and may not be atrophic clinically. This paper serves to describe the salient clinical and histological features of these new or rare disorders.

Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.

We report molecular cytogenetic characterization of mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses. The supernumerary r(1) is associated with gene dosage increase of CHRNB2, ADAR and KCNJ10 in the pericentromeric area of 1q, and a breakpoint within CTTNBP2NL at 1p13.2. We speculate that the gene dosage increase of CHRNB2, ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.

Congenital dermatofibrosarcoma protuberans in a newborn infant with a massive back tumor: favorable effects of oral imatinib on the control of residual tumor growth.

Dermatofibrosarcoma protuberans (DFSP) is known as a very rare malignant tumor of the deep dermis and subcutaneous tissue. It typically develops during adolescence and adulthood, with pediatric and infantile cases, particularly congenital ones, being much less frequent. We report a neonate with congenital DFSP. A newborn girl presented with a massive back tumor at birth. The tumor was at first suspected to be infantile fibrosarcoma (IFS) after immunohistochemical analysis of biopsy material, although the results were not fully compatible with IFS. She received chemotherapy under a tentative diagnosis of IFS, but this was unsuccessful. Partial resection was therefore performed at the age of 8 months to reduce the tumor mass and to reexamine its immunohistochemical characteristics. Positive CD34 staining and Collagen α1α/platelet-derived growth factor beta chimera gene signals on analysis of the excised tumor tissues enabled a definitive diagnosis of DFSP. She then underwent local irradiation and was given a daily dose of oral tyrosine kinase inhibitor (imatinib). After almost 1 year, the patient is doing well without enlargement of the residual tumor.

A case of congenital pigmented dermatofibrosarcoma protuberans (Bednar tumor) in a patient with Fanconi anemia.

Bednar tumor is a rare pigmented variation of dermatofibrosarcoma protuberans, present in 1 to 5% of all patients with dermatofibrosarcoma protuberans. No significant clinicopathologic differences exist between Bednar tumor and conventional dermatofibrosarcoma protuberans apart from the presence of scattered nonneoplastic pigmented dendritic cells in the former. Although most dermatofibrosarcoma protuberans occur in adults, they may be rarely present at birth. Fanconi anemia is a genetically heterogeneous chromosomal instability syndrome, characterized by multiple congenital anomalies, progressive bone marrow failure, and a predisposition to malignancy. We describe here a patient with Fanconi anemia who had a congenital Bednar tumor. To our knowledge, this is the first such patient described with both dermatofibrosarcoma protuberans and Fanconi anemia.

[Atypical presentation of giant cell fibroblastoma]. / Fibroblastome à cellules géantes de présentation atypique.

BACKGROUND: Giant cell fibroblastoma is a specific entity that belongs to the dermatofibrosarcoma protuberans spectrum. We report an original case with an atypical clinical presentation. CASE REPORT: A four-year-old male child presented with a perineoscrotal mass, present since the age of one year. This lesion was initially a bluish perineal macule that grew rapidly after a traumatic injury. Physical examination showed a large flaccid bi-lobed tumour originating from the posterior border of the left of the scrotum to the anal margin. A haemolymphangioma was clinically suspected and the results of ultrasound and MRI were consistent with this diagnosis. Because of the discomfort and the atypical clinical presentation, local surgical resection was performed. Histological examination did not confirm the clinical assumption but revealed a giant cell fibroblastoma. Because of the location of this tumour, a secondary surgical procedure was carried out using the "Slow-Mohs" technique. DISCUSSION: This case is particularly interesting because of the clinical pseudo-angiomatous presentation of this tumour. Use of the "Slow-Mohs" technique allowed sparing of tissue. No recurrence was noted after 3 years of follow-up.

Surgical management of congenital dermatofibrosarcoma protuberans.

Congenital dermatofibrosarcoma protuberans (DFSP) is a rare tumor with varying clinical presentations that is commonly misdiagnosed. Treatment of congenital DFSP is complicated by delays in diagnosis and its propensity for subclinical spread. Of 61 reported cases, 11 (18%) were treated with Mohs micrographic surgery (MMS) and 46 (75%) were treated with wide local excision (WLE). One case was treated with imatinib, and the remaining 3 did not differentiate between receiving MMS or WLE. In the cases of congenital DFSP treated with MMS the clearance rate was 100% with an average follow-up of 4.3 years. The clearance rate seen with WLE was 89% with an average follow-up period of 1.9 years. The average margins taken during MMS (1.7 cm) were smaller than those taken with WLE (2.8 cm). Fifty percent of cases with available follow-up undergoing WLE required multiple surgeries. Based on superior cure rates with long-term follow-up, smaller surgical margins, and fewer surgical sessions, MMS should be considered as first-line treatment for congenital DFSP.

Congenital Bednar's tumour.

Bednar's tumour (BT) is a rare variant of dermatofibrosarcoma protuberans (DFSP). In addition to the typical histological findings of DFSP, melanin-containing dendritic cells are found in BT. Its occurrence at birth is very rare and there have been only two case reports of congenital BT in the English literature. A 12-year-old boy presented with a single, dome-shaped erythematous nodule, 25 x 15 mm in size, on the lower back. The lesion was present as a depressed patch at birth. Subsequently the lesion grew gradually to a dome-shaped mass. Histopathological examination found a dense infiltration of spindle cells arranged in a storiform pattern in the dermis, with pigmented cells admixed with the spindle cells. Cell mitosis and atypia were rarely seen. On immunohistochemical study, the tumour cells were positive for CD34 and melanin-containing cells were positive for S-100. A diagnosis of BT was made and the mass was removed by wide local excision. There was no evidence of recurrence at follow-up 8 months later.

Medallion-like dermal dendrocyte hamartoma: the main diagnostic pitfall is congenital atrophic dermatofibrosarcoma.

Medallion-like dermal dendrocyte hamartoma is a newly described and rare clinical and pathological entity. This congenital, round, erythematous and atrophic lesion in the thoracic area is histologically characterized by a CD34+ dermal and hypodermal spindle-cell infiltration. We describe the clinical, histopathological, cytological and molecular features of three cases of dermal dendrocyte hamartoma. In all the cases, atrophic congenital dermatofibrosarcoma protuberans (DFSP) was the first histological diagnosis. In one case, wide surgery had been performed on the basis of the clinical and histological presentation. The histological pattern was similar in all the cases: epidermal atrophy and a spindle to ovoid cell proliferation in the dermis and in the subcutaneous fat. Immunochemical staining for CD34 and factor XIIIa was positive. Cytogenetic and molecular studies were performed; no chromosomal abnormality nor translocation t(17;22)(q22;q13) was observed. Fluorescence in situ hybridization analysis did not reveal the DFSP fusion gene COL1A1-PDGFB. We observed that the main diagnostic pitfall of medallion-like dermal dendrocyte hamartoma is atrophic congenital DFSP due to clinical and histological similarities. We emphasize that molecular studies to eliminate the t(17;22)(q22;q13) translocation of DFSP may provide determinant elements for diagnosis in order to avoid unnecessary mutilating surgery.

[Congenital dermatofibrosarcoma of Darier and Ferrand: a pediatric case]. / Dermatofibrosarcome de Darier et Ferrand congénital : un cas pédiatrique.

INTRODUCTION: Dermatofibrosarcoma show an extremely aggressive tendency to invade surrounding tissue. It was first described in 1924. It usually occurs in young men. This type of tumor is exceptional in childhood. The authors report a case of congenital dermatofibrosarcoma diagnosed in a child. REPORT OF CASE: A two-year old female patient presented with a tumor of the vertex scalp since her birth. Biopsy revealed a dermatofibrosarcoma. The tumor was removed surgically with 3cm margins. The primary reconstruction was performed using a double temporoparietal flap (H). There was no recurrence at five years of follow-up. DISCUSSION: Congenital dermatofibrosarcoma is very rare. Only twenty cases have been reported.