Características clínicas e histopatológicas de ojos enucleados por melanoma uveal en un hospital terciario en España / Clinical and histopathological features of choroidal melanoma-related enucleated eyes in a Spanish tertiary hospital

Objetivo: Estudiar las variables clínicas y anatomopatológicas de mal pronóstico en una muestra de pacientes con melanoma maligno de úvea que requirieron enucleación como tratamiento definitivo en un hospital terciario en Madrid (España) durante un período de tiempo de 6 años. Material y métodos: Estudio retrospectivo, observacional, longitudinal. Se analiza la presencia de factores clínicos y anatomopatológicos conocidos de mal pronóstico y otros en 30 melanomas malignos: 20 enucleados de novo (grupo A) y 10 tras recibir tratamiento con radioterapia (grupo B). Se estudia el grado de fiabilidad diagnóstica de la resonancia magnética nuclear, comparándola con la histología (gold standard) para predecir la presencia de invasión escleral y extraescleral. Resultados: El tamaño tumoral, la rotura de la membrana de Bruch, la invasión escleral y la proximidad al nervio óptico fueron los factores de mal pronóstico más determinantes. Se logró controlar la enfermedad en el 93% de los casos, con una incidencia de diseminación metastásica del 6% y una supervivencia del 100% a una media de seguimiento de 3 ± 1,5 (rango 1,2-6) años. La sensibilidad de la resonancia magnética nuclear, en nuestra población, para detectar infiltración escleral fue del 27%, y extraescleral, del 100%. Conclusiones: El análisis de los datos clínicos e histopatológicos recogidos justifican la enucleación como tratamiento final en los pacientes estudiados. La resonancia magnética nuclear no resultó un buen método de cribado para detectar la extensión escleral

Objective: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period. Materials and methods: Longitudinal observational retrospective study. The presence of clinical and pathologic factors known to be linked to poor prognosis, as well as other features, was assessed in 30 malignant melanoma: 20 de novo-enucleated malignant melanoma eyes (group A), and 10 in eyes that received radiotherapy prior to enucleation (group B). The diagnostic reliability of magnetic resonance imaging was assessed by comparing it with the histology results (gold standard) as a means to detect scleral and extra-scleral extension. Results: Tumour size, Bruch's membrane rupture, scleral infiltration, and distance to the optic nerve were the most decisive factors for a poor prognosis in the study sample. In 93% of cases the condition was under control, with a 6% incidence rate of metastatic spread and a 100% rate of overall survival for a mean follow-up period of 3 ± 1.5 (range 1.2-6) years. In the study population, the sensitivity of the magnetic resonance imaging to detect scleral infiltration was 27%, which increased to 100% for identifying extra-scleral involvement. Conclusions: The analyses of the clinical and pathological data collected within the framework of this study justify enucleation as the treatment of choice for the patients of this study. Magnetic resonance imaging was not found to be an optimum screening method to detect scleral infiltration in this study sample

Clinical and histopathological features of choroidal melanoma-related enucleated eyes in a Spanish tertiary hospital. / Características clínicas e histopatológicas de ojos enucleados por melanoma uveal en un hospital terciario en España.

OBJECTIVE: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period. MATERIALS AND METHODS: Longitudinal observational retrospective study. The presence of clinical and pathologic factors known to be linked to poor prognosis, as well as other features, was assessed in 30 malignant melanoma: 20 de novo-enucleated malignant melanoma eyes (group A), and 10 in eyes that received radiotherapy prior to enucleation (group B). The diagnostic reliability of magnetic resonance imaging was assessed by comparing it with the histology results (gold standard) as a means to detect scleral and extra-scleral extension. RESULTS: Tumour size, Bruch's membrane rupture, scleral infiltration, and distance to the optic nerve were the most decisive factors for a poor prognosis in the study sample. In 93% of cases the condition was under control, with a 6% incidence rate of metastatic spread and a 100% rate of overall survival for a mean follow-up period of 3±1.5 (range 1.2-6) years. In the study population, the sensitivity of the magnetic resonance imaging to detect scleral infiltration was 27%, which increased to 100% for identifying extra-scleral involvement. CONCLUSIONS: The analyses of the clinical and pathological data collected within the framework of this study justify enucleation as the treatment of choice for the patients of this study. Magnetic resonance imaging was not found to be an optimum screening method to detect scleral infiltration in this study sample.

Condilomas acuminados en varones. ¿Existen diferencias entre población inmigrante y autóctona? / Condyloma Acuminata in Male Patients. Are There Differences Between the Immigrant and Autochthonous Populations?

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Calcificaciones vasculares cutáneas secundarias al tratamiento con teriparatida / Cutaneous Vascular Calcifications Secondary to Treatment with Teriparatide

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Acidosis láctica, hipoglucemia severa y hepatoesplenomegalia / Lactic acidosis, severe hypoglycemia and hepatosplenomegaly

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Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres / Incontinentia pigmenti: three new cases that demostrate it is not only a matter of women

La incontinentia pigmenti es una genodermatosis infrecuente con carácter multisistémico que sigue un patrón de herencia dominante ligado a X, por lo que resulta letal en la mayoría de varones afectados intraútero y muestra gran variabilidad clínica cuando se expresa en mujeres. Recientemente se ha encontrado que las mutaciones del gen NEMO/IKK-g localizado en Xq28 causan la expresión de la enfermedad, siendo una única mutación la responsable de aproximadamente un 80 % de los casos. La incontinentia pigmenti interesa a varias especialidades médicas, aunque son la clínica cutánea y la historia familiar las que marcan el diagnóstico, ayudadas de los hallazgos histológicos. No obstante, la identificación reciente del gen responsable del fenotipo de la enfermedad permite la resolución de muchos casos dudosos mediante estudio genético. Presentamos a continuación tres nuevos casos de esta patología (dos mujeres y un varón) en diferentes estadios evolutivos, que muestran el amplio espectro clínico con el que esta patología puede llegar a nuestra consulta

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic