—El linfoma primario testicular representa entre el 1 y el 2% de todos los linfomas no hodgkinianos. Se trata del tumor testicular más frecuente en varones mayores de 50 años. Muestra una tendencia a ...diseminarse sistémicamente a múltiples áreas extranodales, incluyendo testículo contralateral, sistema nervioso central, piel, anillo de Waldeyer, pulmón y pleura. En el 80-90 % de los casos se trata de un linfoma de células grandes difuso y con inmunofenotipo B. Se presenta un caso de linfoma primario testicular que se manifestó con lesiones cutáneas.
—Primary testicular lymphoma represents between 1 and 2% of all non-Hodgkin's lymphomas. This is the most frequent testicular tumor in men over 50. It shows a tendency to spread systemically to multiple extranodal areas, including the contralateral testicle, central nervous system, skin, Waldeyer's ring, lungs and pleura. In 80-90 % of the cases, this is a diffuse large-cell lymphoma with B immunophenotype. We present a case of primary testicular lymphoma which began with skin lesions.
—El síndrome de Melkersson-Rosenthal es un trastorno neuromucocutáneo caracterizado por la asociación clínica de edema orofacial recurrente, parálisis facial y lengua fisurada. La tríada clásica no ...es frecuente en su forma completa, mientras que las formas oligosintomáticas como la queilitis granulomatosa de Miescher son más comunes. Aunque se han propuesto varios mecanismos patogénicos, incluyendo una etiología infecciosa, atopia e hipersensibilidad a aditivos alimentarios, la etiología es todavía incierta. La biopsia durante los estadios iniciales de la enfermedad muestra vasos linfáticos dilatados, agregados perivasculares de histiocitos, linfocitos y células plasmáticas en el interior de un edema no específico, pero los hallazgos más específicos son los granulomas sarcoideos no caseificantes que no siempre están presentes. El manejo terapéutico es difícil. Se han utilizado corticoides orales e intralesionales, minociclina y queiloplastia, todos con éxito limitado.
—Melkersson-Rosenthal syndrome is a neuro-mucocutaneous disorder characterized by recurrent orofacial swelling, relapsing facial paralysis and fissured tongue. The classic triad is not frequent in a complete form, but oligosymptomatic forms such as Miescher's cheilitis granulomatosa are more common. Although various pathogenic mechanisms have been proposed including an infective aetiology, atopy and hipersensitivity to food additives, the aetiology is still unknown. Biopsies during the early stages of the disease show dilated lymphatics, perivascular aggregates of histiocytes, lymphocytes, and plasma cells in the milieu of nonspecific edema but the most characteristic findings are noncaseating sarcoidal granulomas which are not always present. The therapeutic management is difficult. Oral and intralesional corticoesteroids, minocycline and cheiloplasty have been attempted, all with limited success.
—Las manifestaciones cutáneas de la enfermedad de Fabry tienen un papel importante para el diagnóstico precoz de la enfermedad. Con la introducción de terapias de sustitución enzimática pueden tener ...una relevancia aún mayor. Se describe un caso en el que la presencia de dolores lancinantes en los dedos de las manos tras el ejercicio y de angioqueratomas difusos sugirieron el diagnóstico, posteriormente confirmado mediante estudio enzimático y genético. En este caso, el tratamiento sustitutivo con α-galactosidasa es de utilidad para el paciente.
—The skin manifestations of Fabry’s disease play an important role in the early diagnosis of this disease. With the introduction of enzyme replacement therapy, they may become even more relevant. We describe a case in which the presence of piercing pain in the fingers after exercise and of diffuse angiokeratoma suggested the diagnosis, later confirmed through an enzyme and genetic study. In this case, replacement therapy with α-galactosidase is of help to the patient.
: Lymphangioma circumscriptum is an uncommon hamartomatous malformation that is not only localized to an area of skin, but also spreads to subcutaneous tissue and muscle (Whimster's hypothesis). We ...describe a 7‐year‐old boy with a bluish plaque on the left side of the back and abdomen with clusters of translucent vesicles (frog spawn). Magnetic resonance imaging showed the lymphangioma had spread to muscles and even fat adjacent to the left kidney. We decided against radical surgery as it would have been too aggressive, and limited excision can produce new surface lymphangiomas.
Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic ...trait when the patient is affected by only one impaired ectodermal structure, such as in non-syndromic tooth agenesis (NSTA) disorder. Hypohidrotic ectodermal dysplasia (HED) is the most highly represented ED. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common subtype, with an incidence of 1/50,000-100,000 males, and is associated with the EDA gene (Xq12-q13.1); the dominant and recessive subtypes involve the EDAR (2q13) and EDARADD (1q42.3) genes, respectively. The WNT10A gene (2q35) is associated more frequently with NSTA. Our goal was to determine the mutational spectrum in a cohort of 72 Spanish patients affected by one or more ectodermal derivative impairments referred to as HED (63/72) or NSTA (9 /72) to establish the prevalence of the allelic variants of the four most frequently associated genes. Sanger sequencing of the EDA, EDAR, EDARADD and WNT10A genes and multiplex ligation-dependent probe amplification (MLPA) were performed.
A total of 61 children and 11 adults, comprising 50 males and 22 females, were included. The average ages were 5.4 and 40.2 years for children and adults, respectively. A molecular basis was identified in 51/72 patients, including 47/63 HED patients, for whom EDA was the most frequently involved gene, and 4/9 NSTA patients, most of whom had variants of WNT10A. Among all the patients, 37/51 had variants of EDA, 8/51 had variants of the WNT10A gene, 4/51 had variants of EDAR and 5/51 had variants of EDARADD. In 42/51 of cases, the variants were inherited according to an X-linked pattern (27/42), with the remaining showing an autosomal dominant (10/42) or autosomal recessive (5/42) pattern. Among the NSTA patients, 3/9 carried pathogenic variants of WNT10A and 1/9 carried EDA variants. A total of 60 variants were detected in 51 patients, 46 of which were different, and out of these 46 variants, 12 were novel.
This is the only molecular study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in HED and 44.4% in NSTA. Twelve novel variants were identified. The WNT10A gene has been confirmed as the second molecular candidate that has been identified and accounts for one-half of non-EDA patients and one-third of NSTA patients. Further studies using next generation sequencing (NGS) will help to identify other contributory genes in the remaining uncharacterized Spanish patients.
Refractory psoriasis treatment with etanercept Mahiques Santos, Laura; Martínez-Menchón, Teresa; Sánchez Carazo, José Luis ...
Medicina clínica,
2005-Sep-24, Letnik:
125, Številka:
10
Journal Article
Recenzirano
Etanercept is a dimeric fusion protein that binds to tumor necrosis factor and blocks inflammatory response. The purpose of this study was to assess the effects of etanercept and its maintenance in ...patients with severe and refractory psoriasis.
Twenty two patients with severe and refractory psoriasis in an open-label clinical trial were studied. Patients received etanercept 50 mg/week subcutaneously during 6 months. PASI (Psoriasis Assessment and Severity Index) was used to monitor disease activity in each month of treatment and in the follow up. Results at weeks 12 and 24 are shown.
96% of patients improved their PASI basal score early at week 12. This improvement was maintained until week 24. Etanercept was well tolerated without any significant adverse reaction. Time until relapse was 2.27 +/- 0.59 months (CI 95%: 1.94-2.60).
Etanercept seems an effective therapy for severe and refractory psoriasis yet long-term dosing and safety studies of etanercept in psoriasic patients are needed.
El melanoma es un tumor de estirpe melanocítica con un elevado potencial metastático y una incidencia en aumento. La técnica de la Biopsia Selectiva del Ganglio Centinela (BSGC) se acepta como la ...forma más específica, sensible y con menor morbilidad para realizar la estadificación patológica ganglionar. Objetivos:1) Analizar la capacidad de detección de un protocolo extenso, frente a un método simple de procesamiento del ganglio centinela comparando dos cohortes de pacientes; 2) buscar relación entre el resultado de la técnica de BSGC y otras variables con valor pronóstico establecido, tanto clínicas como histológicas; 3) realizar un estudio de supervivencia y de falsos negativos; 4) estudiar subgrupos de pacientes (melanomas ≥1 mm de Breslow, <1 mm de Breslow y melanomas en extremidades);y 5) comparar ambas técnicas desde el punto de vista económico. Metodología: Realizamos un estudio de cohortes con un diseño observacional analítico longitudinal. Se seleccionaron a los pacientes sometidos a la técnica desde el año 1998 hasta el 2010. La muestra a su vez se subdividió en dos series: la serie correspondiente a los años 1998-2004 y, la serie 2007-2010. En la primera de ellas se realizó un procesamiento simple (sección única de hematoxilina-eosina) mientras que en la segunda se realizó un estudio extenso (protocolo transhiliar bivalvo con secciones seriadas cada 250 µm y múltiples tinciones inmunohistoquímicas (HMB 45, Melan A y S100)). Conclusiones: El protocolo histopatológico extenso de análisis ganglionar ha demostrado mejorar la capacidad de detección de la técnica en nuestro medio. No hay diferencias en la tasa de falsos negativos, pero eliminando el factor de confusión correspondiente a los drenajes múltiples, la tasa disminuye a la mitad. El procesamiento por niveles al menos duplica el coste económico de la serie anterior. El porcentaje de pacientes sometidos a la técnica con melanomas delgados (índice de Breslow menor a 1 mm) es cada vez mayor (40%), aunque el rango de positividad es bajo (2%). La aparición de nuevas opciones de tratamiento en el melanoma metastásico obliga a optimizar la técnica con objeto de identificar el subgrupo de pacientes que podrían beneficiarse de estas nuevas terapias.
Melanoma is a melanocytic lineage tumor with high metastatic potential and increasing incidence. Sentinel lymph node biopsy (SLNB) is accepted as the most specific, sensitive and with less morbidity technique for pathologic nodal staging. Objectives: 1) To analyze the detection capability of an extensive protocol, versus a simple method of lymph node processing, comparing two cohorts of patients; 2) To seek a relationship between the outcome of the SLNB technique and other variables with established prognostic value, both clinical and histological; 3) To conduct a survival and false negatives study; 4) To study subgroups of patients (melanomas with Breslow thickness of 1 mm or more, <1 mm Breslow melanomas and extremity melanomas) and 5) To compare both lymph node processing methods from the economic point of view. Methods: Cohort study with a longitudinal observational analytic design was conducted. Patients undergoing SLNB in our institution from 1998 to 2010 were selected. The sample was divided into two cohorts, patients treated from 1998 to 2004 and those from 2007 to 2010. In the first subgroup, a simple method of processing was performed (single hematoxylin-eosin slide), while in the second, an extensive protocol (transhiliar bivalving 250µm serial sectioning with multiple immunohistochemical stains (HMB 45, Melan A and S100)) was carried out. Conclusions: Extensive histopathologic protocol for assessing sentinel node has shown an improved detection capability of the technique in our institution. No differences in false negatives rate were detected, but removing multiple drains confusion factor, this rate decreases by half. Extensive histopathologic protocol at least double the economic cost of the previous method. Percentage of patients undergoing SLNB technique with thin melanomas (less than 1 mm of Breslow thickness) is growing (40%), although positivity range is low (2%). New emerging treatment options in metastatic melanoma force to optimize the technique in order to identify the subgroup of patients who might benefit from these new therapies.
Infliximab is a chimeric monoclonal antibody that binds to tumor necrosis factor alpha and blocks the inflammatory response. The purpose of this study was to assess the effects of infliximab in ...patients with severe and refractory psoriasis.
Eleven patients with severe and refractory psoriasis were included in an open-label clinical trial. Patients received infliximab 5 mg/kg intravenously at weeks 0, 2, 6 and every 8 weeks. Psoriasis Assessment and Severity Index (PASI) and BSA (Body Surface Assessment) were used to monitor disease activity with each dose. Results at weeks 6 and 30 are shown.
90% of patients improved their PASI and BSA basal scores early at sixth week, achieving 63.6% (PASI75) and 72.7% (BSA50). This improvement was maintained until the 30th week (54.5% and 72.7%, respectively). Infliximab was well tolerated and there was no significant adverse reaction.
Infliximab seems an effective therapy for severe and refractory psoriasis.
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