BRAF Mutation Status Concordance Between Primary Cutaneous Melanomas and Corresponding Metastases: A Review of the Latest Evidence. / Concordancia mutacional de BRAF entre melanoma primario cutáneo y sus correspondientes metástasis. Revisión de la evidencia actual.

The identification of B-Raf proto-oncongene (BRAF) mutation and the emergence of targeted therapy marked a turning point in the treatment of melanoma. The study of mutation status concordance between primary tumors and metastases in this cancer has major treatment implications as it facilitates the selection of candidates for targeted therapy. This review analyzes the evidence on the level of mutation status concordance between primary tumors and different types of metastases in cutaneous melanoma and provides an overview of the advantages and disadvantages of the various methods used to detect BRAF mutations.

Facial Angiofibroma Severity Index (FASI): reliability assessment of a new tool developed to measure severity and responsiveness to therapy in tuberous sclerosis-associated facial angiofibroma.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by the development of multisystem hamartomatous tumours. Topical sirolimus has recently been suggested as a potential treatment for TSC-associated facial angiofibroma (FA). AIM: To validate a reproducible scale created for the assessment of clinical severity and treatment response in these patients. METHODS: We developed a new tool, the Facial Angiofibroma Severity Index (FASI) to evaluate the grade of erythema and the size and extent of FAs. In total, 30 different photographs of patients with TSC were shown to 56 dermatologists at each evaluation. Three evaluations using the same photographs but in a different random order were performed 1 week apart. Test and retest reliability and interobserver reproducibility were determined. RESULTS: There was good agreement between the investigators. Inter-rater reliability showed strong correlations (> 0.98; range 0.97-0.99) with inter-rater correlation coefficients (ICCs) for the FASI. The global estimated kappa coefficient for the degree of intra-rater agreement (test-retest) was 0.94 (range 0.91-0.97). CONCLUSIONS: The FASI is a valid and reliable tool for measuring the clinical severity of TSC-associated FAs, which can be applied in clinical practice to evaluate the response to treatment in these patients.

Ichthyosis vulgaris: the filaggrin mutation disease.

Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin barrier functions and increase the risk of atopic dermatitis.

[Accessory breast on the vulva]. / Mama ectópica vulvar.

We describe a 24-year-old woman with a subcutaneous swelling in the left inferior pubic region. Histology revealed ectopic breast tissue. Vulvar tumors are uncommon and the presence of ectopic breast tissue in this region is extremely rare. In these cases, patients usually consult for a mass that varies in size with hormonal changes, typically during pregnancy or breast-feeding, or that has associated neoplastic changes. In our patient, the mass had grown progressively with no identifiable underlying hormonal association or neoplasm. We therefore classified it as ectopic breast tissue presenting as a subcutaneous mass.

Infecciones frecuentes en Dermatología Pediátrica: actualización / Frequent infections in pediatric dermatology: an update

Las infecciones cutáneas son una causa frecuente de consulta en dermatología pediátrica. De entre ellas la infección por el virus del molluscum contagiosum, las tiñas del cuero cabelludo, el virus del papiloma humano y la escabiosis son las más frecuentes actualmente. En el tratamiento del molluscum contagiosum sigue sin haber evidencia suficiente que avale las distintas opciones terapéuticas. La utilización de imiquimod tópico queda desechada dentro de estas opciones. En el tratamiento sistémico de la tiña capitis en la edad pediátrica hay cada vez una mayor evidencia que avale no solo la griseofulvina sino también otros fármacos como el itraconazol, fluconazol o terbinafina. El tratamiento adyuvante y de los contactos es altamente recomendado. Cada vez se dispone de nuevos tratamientos frente al virus del papiloma humano. Los tratamientos físicos por su dolor asociado y el riesgo de secuelas se siguen considerando de segunda elección. La vacunación tanto de niñas como de niños se encuentra ya incluida en el calendario vacunal en España. En el tratamiento de la escabiosis la permetrina en crema al 5% se mantiene como primera elección, pero nuevas opciones terapéuticas como la ivermectina oral se han incorporado a nuestro arsenal terapéutico. En el siguiente artículo realizamos una revisión de las novedades en el tratamiento de estas patologías

Cutaneous infections are a frequent cause of consultation in pediatric dermatology. Among them infection with the mollus cum contagiosum virus, tinea capitis, human papillomavirus and scabies are the most frequent today. In the treatment of molluscum contagiosum, there is still not enough evidence to support the different therapeutic options. The use of topical imiquimod is discarded within these options. In the systemic treatment of tinea capitis in the pediatric age, there is increasing evidence to support not only griseofulvin but also other drugs such as itraconazole, fluconazole or terbinafine. Adjuvant and contact treatment is highly recommended. New treatments against the human papillomavirus are available. Physical treatments due to their associated pain and the risk of sequelae are still considered second choice. Vaccination of both girls and boys is already included in the vaccination calendar in Spain. In the treatment of scabies, 5% permethrin cream remains the first choice, but new therapeutic options such as oral ivermectin have been incorporated into our therapeutic arsenal. In the following paper we carry out a review of the novelties in the treatment of these diseases

Concordancia mutacional de BRAF entre melanoma primario cutáneo y sus correspondientes metástasis. Revisión de la evidencia actual / BRAF Mutation Status Concordance Between Primary Cutaneous Melanomas and Corresponding Metastases: A Review of the Latest Evidence

La mutación en el oncogén BRAF en melanoma y la aparición de terapias dirigidas frente a ella han supuesto un antes y un después en el tratamiento de esta enfermedad. El estudio del estado mutacional en las metástasis y su concordancia con el tumor primario tiene además una gran implicación terapéutica en estos pacientes, pues permite seleccionar candidatos a estos tratamientos. El objetivo de esta revisión es conocer las evidencias disponibles sobre el grado de concordancia en los distintos tipos de metástasis en el melanoma cutáneo, así como las ventajas y desventajas de los distintos métodos de detección de la mutación en BRAF

The identification of B-Raf proto-oncongene (BRAF) mutation and the emergence of targeted therapy marked a turning point in the treatment of melanoma. The study of mutation status concordance between primary tumors and metastases in this cancer has major treatment implications as it facilitates the selection of candidates for targeted therapy. This review analyzes the evidence on the level of mutation status concordance between primary tumors and different types of metastases in cutaneous melanoma and provides an overview of the advantages and disadvantages of the various methods used to detect BRAF mutations

Reconstrucción del ala nasal mediante colgajo malar invertido de pedículo subcutáneo / Reconstruction of the Ala Nasi Using a Malar Turnover Island Pedicle Flap

No disponible