ABSTRACT
Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.
Subject(s)
Infant, Newborn , Child , Humans , Vascular Malformations/pathology , Vascular Diseases , SyndromeABSTRACT
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.
Subject(s)
Humans , Male , Adolescent , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/diagnosis , Mohs Surgery , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Diagnosis, Differential , Dermatofibrosarcoma/congenital , Skin Neoplasms/congenital , Treatment OutcomeABSTRACT
PURPOSE: Birthmarks are commonly observed during neonatal period and its prevalence varies between races and countries. Most skin lesions are transient and not require medical treatment. But some birthmarks have potential medical significance and may be the first sign of systemic medical problems. We carried out a prospective study to determine the prevalence of birthmarks in Korean newborn infants. METHODS: From October 2012 to January 2013, 1,964 Korean newborn infants who were born in Cheil General Hospital, Kwandong University College of Medicine were evaluated for the presence of birthmarks within 48 hours after birth. RESULTS: Among 1,964 newborn infants, 980 (49.9%) infants were male and 984 (50.1%) were female. The most common pigmentary birthmark was Mongolian spot (97.1%), which was mostly presented on sacrogluteal area, and was followed by nevocellular nevi (0.8%), cafe-au-lait spot (0.8%), and sebaceous nevi (0.2%). Among vascular birthmarks, the most common lesion was salmon patch (30.8%), and followed by port-wine stain (0.2%) and hemangioma (0.2%). The common other lesions were sebaceous hyperplasia (37.4%), erythema toxicum neonatorum (10.2%), milia (4.1%), skin appendage (2.6%), anal dimple (1.2%), auricular pit (0.9%), miliaria (0.5%), aplasia cutis congenita (0.2%) in the order of frequency. CONCLUSION: We studied the prevalence of the birthmarks in Korean newborn infants. The most common pigmentary birth mark was mongolian spot, and the most common vascular birthmark was salmon patch in Korean newborn infants.