RESUMEN
This case report describes the utility of artificial dermis in reconstruction for atrophic dermatofibrosarcoma protuberans (DFSP) after slow Mohs micrographic surgery (MMS). A 34-year-old man presented as a slowly growing nodule from an atrophic scar on his right chest for over 10 years. The pathology report confirmed the diagnosis of atrophic DFSP. Further magnetic resonance imaging (MRI) revealed a 9.3 cm x 6.5 cm cutaneous-subcutaneous lesion with close contact with the pectoralis major muscle. The patient underwent a slow MMS, and we utilized a rotational flap in combination with synthetic xenogeneic artificial dermis to reconstruct the final 13 cm x 12 cm defect.
RESUMEN
We present a case series of atrophic dermatofibrosarcoma protuberans (DFSP) to further characterise its clinical and pathological features. Sixteen cases were enrolled in the study. There were five males and 11 females with a median age of 28 years. The vast majority occurred in the trunk (12/16, 75%), whereas a minority involved the upper limb or limb gird (2/16, 12.5%), and head and neck region (2/16, 12.5%). The most common presentation was a depressed plaque-like lesion with a greyish-red to purplish-blue colour. Histologically, the lesion was dermal-based consisting of monomorphous spindle cells arranged in parallel fascicles with focal areas displaying storiform architecture. In addition, one case showed remarkable hyalinisation of the matrix, two cases contained scattered pigmented dendritic cells and one case had admixed giant cell fibroblastoma-like component, respectively. The diagnosis was confirmed by immunohistochemical study, and by further fluorescence in situ hybridisation analysis in six cases. Follow-up thus far has revealed a relatively low rate of local recurrence (1/10, 10%). Familiarity with the distinctive clinical and pathological features of atrophic DFSP helps avoid misdiagnosis. Like a classical DFSP, morphological variants can also occur in an atrophic DFSP, including pigmented, sclerosing and hybrid subtypes, albeit rare.
Asunto(s)
Dermatofibrosarcoma/diagnóstico , Neoplasias Cutáneas/diagnóstico , Piel/patología , Adolescente , Adulto , Niño , Dermatofibrosarcoma/metabolismo , Dermatofibrosarcoma/patología , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Piel/metabolismo , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Adulto JovenRESUMEN
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.
Asunto(s)
Humanos , Masculino , Adolescente , Dermatofibrosarcoma/cirugía , Dermatofibrosarcoma/diagnóstico , Cirugía de Mohs , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/diagnóstico , Diagnóstico Diferencial , Dermatofibrosarcoma/congénito , Neoplasias Cutáneas/congénito , Resultado del TratamientoRESUMEN
Atrophic dermatofibrosarcoma protuberans (DFSP) is an uncommon clinical variant, which clinically mimics other atrophic dermatological conditions. Given the typical 'protuberant' morphology of DFSP, such atrophic lesions may be difficult to diagnose clinically. We report a 44-year-old man who presented with an 8-month history of an asymptomatic, depressed, anetoderma-like plaque on the right subclavicular area. He also presented with a 1-year history of a 1.5x1.5 cm, asymptomatic, firm, erythematous nodule above an atrophic lesion. Biopsy specimens were taken from each lesion. These specimens, along with histochemical staining for CD34, established the diagnosis of dermatofibrosarcoma protuberans.