Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

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.