RESUMEN
BACKGROUND: Psoriasis (Ps) and atopic dermatitis (AD) are chronic systemic immune-mediated diseases that can coexist in an overlapping condition called psoriasis dermatitis (PD). PD patients have intermediate lesions with characteristics of both Ps and AD. PD is very rare in adults but much more frequent in children. Little is known, however, about the course of PD in the pediatric population. The aim of this study was to evaluate the percentage of PD cases in children that evolved to a definite form of Ps or AD and to identify any clinical or epidemiological variables that could predict the course of the disease. METHODS: We performed a prospective multicenter cohort study of children diagnosed with PD between January 2018 and December 2020. We collected participants' clinical and epidemiological characteristics, and pediatric dermatologists determined the percentage of participants who developed Ps or AD. RESULTS: The study included 24 children with PD, with a median age of 7.0 years. After a median follow-up period of 31 months, 83.3% of cases had evolved to a definite form of Ps or AD (44.4% to Ps and 38.9% to AD). Younger age and family history of Ps were associated with progression to AD. Participants who progressed to AD or Ps had a longer follow-up than those with an unchanged PD diagnosis. CONCLUSIONS: Given sufficient time, a large percentage of PD cases in children will evolve into Ps or AD. Long-term clinical follow-up is necessary for a correct diagnosis.
RESUMEN
Despite advances in targeted therapies, the treatment of advanced melanoma remains an exercise in disease management, hence a need for biomarkers for identification of at-risk primary melanoma patients. In this study, we aimed to assess the prognostic value of TERT promoter mutations in primary melanomas. Tumors from 300 patients with stage I/II melanoma were sequenced for TERT promoter and BRAF/NRAS mutations. Cumulative curves were drawn for patients with and without mutations with progression-free and melanoma-specific survival as outcomes. Cox proportional hazard regression models were used to determine the effect of the mutations on survivals. Individually, presence of TERT promoter and BRAF/NRAS mutations associated with poor disease-free and melanoma-specific survival with modification of the effect by the rs2853669 polymorphism within the TERT promoter. Hazard ratio (HR) for simultaneous occurrence of TERT promoter and BRAF/NRAS mutations for disease-free survival was 2.3 (95% CI 1.2-4.4) and for melanoma-specific survival 5.8 (95% CI 1.9-18.3). The effect of the mutations on melanoma-specific survival in noncarriers of variant allele of the polymorphism was significant (HR 4.5, 95% CI 1.4-15.2) but could not be calculated for the carriers due to low number of events. The variant allele per se showed association with increased survival (HR 0.3, 95% CI 0.1-0.9). The data in this study provide preliminary evidence that TERT promoter mutations in combination with BRAF/NRAS mutations can be used to identify patients at risk of aggressive disease and the possibility of refinement of the classification with inclusion of the rs2853669 polymorphism within TERT promoter.
Asunto(s)
Biomarcadores de Tumor/genética , Melanoma/genética , Pronóstico , Telomerasa/genética , Adulto , Anciano , Supervivencia sin Enfermedad , GTP Fosfohidrolasas/genética , Humanos , Estimación de Kaplan-Meier , Melanoma/patología , Proteínas de la Membrana/genética , Persona de Mediana Edad , Estadificación de Neoplasias , Regiones Promotoras Genéticas , Modelos de Riesgos Proporcionales , Proteínas Proto-Oncogénicas B-raf/genéticaRESUMEN
Perineuriomas are rare tumors derived from perineural cells usually presenting as a single asymptomatic papule or nodule located on an extremity of an adult. A sclerosing subtype has been rarely described. We report a case of painful sclerosing perineurioma in a 42-year-old woman.
