ABSTRACT
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.
Subject(s)
Neurilemmoma , Neurofibromatosis 1 , Neurofibromatosis 2 , Skin Diseases , Skin Neoplasms , Female , Humans , Neurilemmoma/diagnosis , Neurilemmoma/genetics , Neurilemmoma/pathology , Neurofibromatosis 1/complications , Neurofibromatosis 2/complications , Neurofibromatosis 2/diagnosis , Neurofibromatosis 2/genetics , Prognosis , Skin Diseases/complications , Skin Neoplasms/pathologyABSTRACT
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.
Subject(s)
Lupus Erythematosus, Systemic/complications , Protein S Deficiency/diagnosis , Skin/pathology , Female , Humans , Necrosis/pathology , Thrombosis/pathology , Venous Thromboembolism/pathology , Young AdultABSTRACT
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.
Subject(s)
Neurofibromatosis 2/pathology , Skin/pathology , Cafe-au-Lait Spots/etiology , Cataract/genetics , Child , Early Diagnosis , Genes, Neurofibromatosis 2 , Humans , Hyperpigmentation/genetics , Hypertrichosis/genetics , Molecular Diagnostic Techniques , Neurilemmoma/genetics , Neurilemmoma/pathology , Neurofibromatosis 2/diagnosis , Neuroma, Acoustic/diagnostic imaging , Neuroma, Acoustic/genetics , Prognosis , Skin Diseases/genetics , Skin Diseases/pathologyABSTRACT
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.
Subject(s)
Common Variable Immunodeficiency/diagnosis , Granuloma/diagnosis , Sarcoidosis/diagnosis , Skin Diseases/diagnosis , Synovial Membrane , Adult , Female , HumansABSTRACT
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.
Subject(s)
Drug Eruptions/etiology , Hepacivirus/isolation & purification , Hepatitis C, Chronic/drug therapy , Oligopeptides/adverse effects , Serine Proteinase Inhibitors/adverse effects , Adult , Aged , Disease Progression , Drug Eruptions/epidemiology , Drug Therapy, Combination , Female , Genotype , Hepacivirus/genetics , Hepatitis C, Chronic/virology , Humans , Interferons/therapeutic use , Male , Middle Aged , Oligopeptides/therapeutic use , Prospective Studies , Ribavirin/therapeutic use , Serine Proteinase Inhibitors/therapeutic use , Severity of Illness IndexSubject(s)
Chorioretinitis/etiology , Oral Ulcer/etiology , Syphilis/complications , Biopsy , Diagnostic Errors , Herpes Genitalis/diagnosis , Humans , Immunocompetence , Male , Middle Aged , Ophthalmoscopy , Oral Ulcer/microbiology , Oral Ulcer/pathology , Palate/microbiology , Palate/pathology , Palatine Tonsil/microbiology , Palatine Tonsil/pathology , Retinal Pigment Epithelium/pathology , Syphilis/diagnosis , Syphilis Serodiagnosis , Treponema pallidum/isolation & purificationABSTRACT
La neurofibromatosis tipo 2 es una enfermedad hereditaria, autosómica dominante, con penetrancia completa, que ocasiona la aparición de múltiples tumores en el sistema nervioso central y periférico, afectación ocular y lesiones cutáneas de distinta índole. La clínica de la neurofibromatosis tipo 2 es, en general, poco conocida, tanto por los dermatólogos como por el resto de los especialistas, lo que deriva, en algunos casos, en un retraso en el diagnóstico que favorece un aumento de la morbilidad y la mortalidad. En este artículo se expondrán las manifestaciones clínicas menos conocidas, haciendo especial hincapié en las lesiones dermatológicas propias de la enfermedad, las cuales en caso de presentarse y ser identificadas, pueden facilitar el diagnóstico de la misma (AU)
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 (AU)
Subject(s)
Humans , Neurofibromatosis 2/complications , Cafe-au-Lait Spots/etiology , Neurilemmoma/pathology , Skin Diseases/etiology , Skin Neoplasms/pathology , Neuroma, Acoustic/pathology , Early DiagnosisABSTRACT
No disponible
Subject(s)
Humans , Male , Middle Aged , Chorioretinitis/diagnosis , Syphilis/diagnosis , Oral Ulcer/etiology , Deglutition Disorders/etiologyABSTRACT
No disponible
Subject(s)
Humans , Female , Child, Preschool , Lymphatic Abnormalities/surgery , Lymphatic Abnormalities/therapy , Sclerotherapy/instrumentation , Sclerotherapy/methods , Sclerotherapy , Radiotherapy/instrumentation , Radiotherapy/methods , Doxycycline/administration & dosage , Doxycycline/pharmacology , Doxycycline/therapeutic use , Ultrasonography, Doppler/instrumentation , Ultrasonography, Doppler/methods , Magnetic Resonance Spectroscopy/instrumentation , Magnetic Resonance Spectroscopy/methods , Magnetic Resonance Spectroscopy/therapeutic use , Biopsy, Fine-Needle/instrumentation , Biopsy, Fine-Needle/methods , Biopsy, Fine-NeedleABSTRACT
INTRODUCCIÓN: Telaprevir es un fármaco que administrado junto a interferón y ribavirina incrementa de forma significativa la respuesta al tratamiento de la infección por el virus de la hepatitis C. Sin embargo, su empleo incrementa también la probabilidad de desarrollar efectos adversos, en muchos casos cutáneos que pueden condicionar el mantenimiento del tratamiento. OBJETIVO: Conocer la incidencia, características clínicas y evolutivas y respuesta al tratamiento de las toxicodermias por telaprevir en el contexto del tratamiento de la infección por el virus de la hepatitis C. MATERIAL Y MÉTODOS: 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 demográficos de los pacientes, las características clínicas de las lesiones y la evolución tras la aplicación de las recomendaciones de las guías clínicas. RESULTADOS: De un total de 43 pacientes que recibieron tratamiento triple un 46% presentó toxicodermia atribuible a telaprevir. En el 90% de los casos esta fue leve o moderada (grados 1 o 2) y consistió en un exantema constituido por pápulas y placas eritematoedematosas y descamativas. En alrededor de un tercio de los pacientes se comprobó la progresión de la toxicodermia, principalmente en extensión, durante el curso del tratamiento. En 2 casos (4,6%) las lesiones cutáneas condicionaron la suspensión del fármaco. Un 79% de los tratados (34 pacientes) alcanzó 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 suspensión
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
Subject(s)
Humans , Male , Female , Adult , Aged , Middle Aged , Drug Eruptions/etiology , Hepacivirus/isolation & purification , Hepatitis C, Chronic/drug therapy , Oligopeptides/adverse effects , Serine Proteinase Inhibitors/adverse effects , Observational Study , Disease Progression , Drug Therapy, Combination , Genotype , Interferons/therapeutic use , Ribavirin/therapeutic use , Prospective StudiesABSTRACT
No disponible
Subject(s)
Humans , Male , Adolescent , Hand Deformities, Acquired/drug therapy , Triamcinolone/administration & dosage , Injections, Subcutaneous , FingersABSTRACT
No disponible