Search

NF2-related schwannomatosis (NF2-related SWN) is an autosomal dominant condition caused by loss of function variants in the

Altres ajuts: acords transformatius de la UAB Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguish it from epidermal nevi seen in similar conditions, such as Proteus syndrome. We present a case of linear Cowden nevus in a 4-year-old boy and review the literature.

Background Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied. Objectives To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity. Methods We studied the clinical and histologic characteristics of cutaneous lesions in 49 patients with NF2 and analysed correlations with phenotype- and genotype-based severity scores. We collected information on the presence/absence of cutaneous lesions, location, age at onset, type of lesion, and histologic features. We also studied level of systemic involvement and genetic mutations involved. Results Forty-nine patients (31 women [63.3%] and 18 men [36.7%]) were analysed, and 33 (67.3%) had cutaneous lesions presumed to be schwannomas. According to their clinical form, they were distributed as follows: 24 patients (48%) had deep tumours, 21 (42%) had plaque-like lesions, and 3 (6%) had superficial tumours. Histologic examination from 27 lesions analysed out 23 patients showed classic schwannoma or hybrid schwannoma-neurofibroma features in the 8 deep tumours biopsied and plexiform schwannoma features in the 17 plaque-like lesions and the 2 superficial tumours analysed. Early onset (first 2 decades of life) was reported by all patients with plaques and superficial tumours. In our cohort, 100% of the patients with plaque-like lesions and superficial tumours with microscopic features of plexiform schwannoma were in the 2 groups with the most severe clinical phenotypes, and 82.6% of them were in the 3 most severe genotype-based classes. Conclusions and Relevance Cutaneous lesions, specially plexiform schwannomas, are common in NF2, and they usually appear at an early age providing useful diagnostic and prognostic information. These tumours are part of the spectrum of cutaneous manifestations in this disease. Although its diagnostic and prognostic value has been pointed out, there are few studies focussed on their analysis.

Altres ajuts: acords transformatius de la UAB Background: Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied. Objectives: To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity. Methods: We studied the clinical and histologic characteristics of cutaneous lesions in 49 patients with NF2 and analysed correlations with phenotype- and genotype-based severity scores. We collected information on the presence/absence of cutaneous lesions, location, age at onset, type of lesion, and histologic features. We also studied level of systemic involvement and genetic mutations involved. Results: Forty-nine patients (31 women [63.3%] and 18 men [36.7%]) were analysed, and 33 (67.3%) had cutaneous lesions presumed to be schwannomas. According to their clinical form, they were distributed as follows: 24 patients (48%) had deep tumours, 21 (42%) had plaque-like lesions, and 3 (6%) had superficial tumours. Histologic examination from 27 lesions analysed out 23 patients showed classic schwannoma or hybrid schwannoma-neurofibroma features in the 8 deep tumours biopsied and plexiform schwannoma features in the 17 plaque-like lesions and the 2 superficial tumours analysed. Early onset (first 2 decades of life) was reported by all patients with plaques and superficial tumours. In our cohort, 100% of the patients with plaque-like lesions and superficial tumours with microscopic features of plexiform schwannoma were in the 2 groups with the most severe clinical phenotypes, and 82.6% of them were in the 3 most severe genotype-based classes. Conclusions and Relevance: Cutaneous lesions, specially plexiform schwannomas, are common in NF2, and they usually appear at an early age providing useful diagnostic and prognostic information. These tumours are part of the spectrum of cutaneous manifestations in this disease. Although its diagnostic and prognostic value has been pointed out, there are few studies focussed on their analysis.

Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease. Identification of these lesions, when present, can facilitate diagnosis.

Resumen La neurofibromatosis tipo 2 es una enfermedad hereditaria, autosomica dominante, con penetrancia completa, que ocasiona la aparicion de multiples tumores en el sistema nervioso central y periferico, afectacion ocular y lesiones cutaneas de distinta indole. La clinica de la neurofibromatosis tipo 2 es, en general, poco conocida, tanto por los dermatologos como por el resto de los especialistas, lo que deriva, en algunos casos, en un retraso en el diagnostico que favorece un aumento de la morbilidad y la mortalidad. En este articulo se expondran las manifestaciones clinicas menos conocidas, haciendo especial hincapie en las lesiones dermatologicas propias de la enfermedad, las cuales en caso de presentarse y ser identificadas, pueden facilitar el diagnostico de la misma.

Protein S deficiency is rare in systemic lupus erythematosus (SLE) and is generally associated with the presence of antiphospholipid (APL) antibodies. Lack of protein S can cause skin necrosis, but when it does it is generally in response to warfarin exposure. In this article, we describe the case of a patient who had not received warfarin and without APL antibodies who developed extensive skin necrosis due to protein S deficiency. It is important to investigate protein S deficiency in patients with lupus and extensive skin ulcers as it is a sign of arterial thrombosis and venous thromboembolism.

Protein S deficiency is rare in systemic lupus erythematosus (SLE) and is generally associated with the presence of antiphospholipid (APL) antibodies. Lack of protein S can cause skin necrosis, but when it does it is generally in response to warfarin exposure. In this article, we describe the case of a patient who had not received warfarin and without APL antibodies who developed extensive skin necrosis due to protein S deficiency. It is important to investigate protein S deficiency in patients with lupus and extensive skin ulcers as it is a sign of arterial thrombosis and venous thromboembolism.

Introduction When co-administered with interferon and ribavirin, the prescription drug telaprevir significantly improves treatment response in patients with chronic hepatitis C virus (HCV) infection. Its use, however, also increases the likelihood of adverse effects that may lead to discontinuation of treatment. Cutaneous adverse effects are particularly common. Objective To determine the frequency and clinical characteristics of drug eruptions induced by telaprevir in patients receiving HCV treatment and to analyze the clinical course of lesions and response to treatment. Material and methods We performed a prospective observational study of all patients who started a treatment regimen that included telaprevir between May 2012 and July 2013. We recorded the demographic characteristics of the patients who developed telaprevir-induced eruptions, and analyzed the clinical characteristics of the lesions and their clinical course following the application of guideline-based treatment recommendations. Results Twenty (46%) of the 43 patients who received triple therapy with interferon, ribavirin, and telaprevir during the study period developed drug reactions attributable to telaprevir. The reaction was classified as mild or moderate (grades 1 or 2) in 90% of cases and consisted of an exanthem with erythematous-edematous scaling plaques and papules. The rash worsened, mainly by spreading, in about one-third of cases. The skin lesions led to discontinuation of treatment in 2 patients (4.6%). Sustained viral response was achieved in 34 patients (79%). Conclusions Telaprevir-induced eruptions are common and often progress, but they rarely require patients to discontinue treatment.

Resumen Introduccion Telaprevir es un farmaco que administrado junto a interferon y ribavirina incrementa de forma significativa la respuesta al tratamiento de la infeccion por el virus de la hepatitis C. Sin embargo, su empleo incrementa tambien la probabilidad de desarrollar efectos adversos, en muchos casos cutaneos que pueden condicionar el mantenimiento del tratamiento. Objetivo Conocer la incidencia, caracteristicas clinicas y evolutivas y respuesta al tratamiento de las toxicodermias por telaprevir en el contexto del tratamiento de la infeccion por el virus de la hepatitis C. Material y metodos Estudio prospectivo observacional realizado entre mayo de 2012 y julio de 2013 en el que se incluyeron aquellos pacientes que iniciaron tratamiento con telaprevir durante ese periodo. En aquellos en los que se detectaron toxicodermia se recogieron los datos demograficos de los pacientes, las caracteristicas clinicas de las lesiones y la evolucion tras la aplicacion de las recomendaciones de las guias clinicas. Resultados De un total de 43 pacientes que recibieron tratamiento triple un 46% presento toxicodermia atribuible a telaprevir. En el 90% de los casos esta fue leve o moderada (grados 1 o 2) y consistio en un exantema constituido por papulas y placas eritematoedematosas y descamativas. En alrededor de un tercio de los pacientes se comprobo la progresion de la toxicodermia, principalmente en extension, durante el curso del tratamiento. En 2 casos (4,6%) las lesiones cutaneas condicionaron la suspension del farmaco. Un 79% de los tratados (34 pacientes) alcanzo una respuesta viral sostenida tras el tratamiento. Conclusiones Las toxicodermias asociadas a telaprevir son frecuentes en el curso del tratamiento y a menudo progresivas. Sin embargo, solo de forma excepcional condicionan su suspension.

Mouth ulcers are a cutaneous complication that can often affect kidney transplant patients, mostly due to the effect of immunosuppressive treatment.Even so, before asserting that said complication is indeed secondary to drugs, it is very important to establish a differential diagnosis with other mouth ulcer causes, such as systemic diseases or viral infections, which are also common in these patients. Resumen: Las úlceras orales son una de las complicaciones cutáneas que pueden afectar con frecuencia a los pacientes trasplantados renales, debido muchas veces al efecto del tratamiento inmunosupresor.Aun así, es importante, antes de asegurar que dicha complicación es secundaria a los fármacos, establecer el diagnóstico diferencial con otras causas de úlceras orales como pueden ser enfermedades sistémicas o infecciones virales, también frecuentes en este tipo de pacientes. Keywords: Kidney transplant, Mycophenolate mofetil, Mouth ulcers, Cytomegalovirus, Palabras clave: Trasplante renal, Micofenolato mofetilo, Úlceras orales, Citomegalovirus

Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinaemia, T-cell abnormalities and recurrent bacterial infections. Patients with CVID can present granulomatous lesions on both the skin and other organs. When these lesions are the first sign of the disease, the diagnosis can be very challenging. We report the case of a patient with undiagnosed CVID, who presented with necrotizing and sarcoidal granulomas on the skin and synovial membrane as the first appearance of immunodeficiency.

When co-administered with interferon and ribavirin, the prescription drug telaprevir significantly improves treatment response in patients with chronic hepatitis C virus (HCV) infection. Its use, however, also increases the likelihood of adverse effects that may lead to discontinuation of treatment. Cutaneous adverse effects are particularly common.To determine the frequency and clinical characteristics of drug eruptions induced by telaprevir in patients receiving HCV treatment and to analyze the clinical course of lesions and response to treatment.We performed a prospective observational study of all patients who started a treatment regimen that included telaprevir between May 2012 and July 2013. We recorded the demographic characteristics of the patients who developed telaprevir-induced eruptions, and analyzed the clinical characteristics of the lesions and their clinical course following the application of guideline-based treatment recommendations.Twenty (46%) of the 43 patients who received triple therapy with interferon, ribavirin, and telaprevir during the study period developed drug reactions attributable to telaprevir. The reaction was classified as mild or moderate (grades 1 or 2) in 90% of cases and consisted of an exanthem with erythematous-edematous scaling plaques and papules. The rash worsened, mainly by spreading, in about one-third of cases. The skin lesions led to discontinuation of treatment in 2 patients (4.6%). Sustained viral response was achieved in 34 patients (79%).Telaprevir-induced eruptions are common and often progress, but they rarely require patients to discontinue treatment.