Assuntos
Pênfigo/metabolismo , Receptores Adrenérgicos beta 1/metabolismo , Receptores Adrenérgicos beta 2/metabolismo , Receptores Adrenérgicos beta 3/metabolismo , Estudos de Casos e Controles , Dermatite Esfoliativa/etiologia , Dermatite Esfoliativa/metabolismo , Epiderme/metabolismo , Humanos , Queratinócitos/metabolismo , Pênfigo/complicaçõesRESUMO
BACKGROUND: Erythroderma is a severe manifestation of pemphigus foliaceus (PF), a blistering disease mediated by IgG autoantibodies against desmoglein 1. Increasing evidence supports the contribution of angiogenic mediators in the pathogenesis of erythroderma. OBJECTIVE: To evaluate the in situ expression of vascular endothelial growth factor (VEGF) and endoglin in patients with PF with erythroderma. METHODS: Formalin-fixed paraffin-embedded skin samples obtained from patients with erythrodermic PF (n = 19; 12 patients with endemic PF), non-erythrodermic PF (n = 17), pemphigus vulgaris (PV; n = 10), psoriasis (n = 10) and healthy individuals (HI; n = 10) were processed in an automated immunohistochemistry platform utilizing anti-VEGF and anti-endoglin as primary antibodies. Reactivity was evaluated both manually (0 = negative; 1+ = mild; 2+ = intense) and through an automated microvessel analysis algorithm. RESULTS: Vascular endothelial growth factor expression in erythrodermic PF was higher than in non-erythrodermic PF (P = 0.034) and in HI (P = 0.004), and similar to psoriasis (P = 0.667) and PV (P = 0.667). In non-erythrodermic PF, VEGF positivity was similar to HI (P = 0.247), and lower than psoriasis (P = 0.049) and PV (P = 0.049). Both erythrodermic and non-erythrodermic PF presented similar endoglin expression (P = 0.700). In addition, endoglin positivity during erythrodermic PF was similar to psoriasis (P = 0.133) and lower than PV (P = 0.0009). Increased expression of in situVEGF suggests that healing processes are triggered in response to tissue damage led by autoantibodies in PF, especially during erythroderma. Reduced endoglin positivity suggests that an unbalanced angiogenesis may occur during erythrodermic PF. Further studies may help to confirm if the regulation of VEGF and endoglin expression in patients with PF can contribute to control the healing process and enable disease remission. CONCLUSION: Overexpression of VEGF in erythrodermic PF as well as in PV and psoriasis points out a dysregulated repair process in severe forms of these diseases and suggests VEGF and endoglin could act as prognostic markers and future therapeutic targets to enable proper healing in PF.
Assuntos
Endoglina/metabolismo , Pênfigo/patologia , Psoríase/patologia , Fator A de Crescimento do Endotélio Vascular/metabolismo , Adulto , Idoso , Biomarcadores/metabolismo , Biópsia por Agulha , Estudos de Casos e Controles , Dermatite Esfoliativa/metabolismo , Dermatite Esfoliativa/parasitologia , Progressão da Doença , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Pênfigo/metabolismo , Valor Preditivo dos Testes , Prognóstico , Psoríase/metabolismo , Valores de Referência , Estudos Retrospectivos , Inclusão do TecidoRESUMO
BACKGROUND: Erythroderma is a clinical skin syndrome shared by patients with cutaneous disorders of distinct aetiologies as a result of the combined actions of chemokines, adhesion molecules, and cytokines, such as vascular endothelial growth factor (VEGF). OBJECTIVE: To evaluate the profile of serum levels of VEGF and soluble vascular endothelial growth factor receptor 1 (sVEGFR-1) in pemphigus foliaceus (PF) patients with erythroderma. METHODS: We conducted a retrospective study, which included (i) a chart review of all PF patients from the Autoimmune Blistering Clinic, University of Sao Paulo, Brazil, from January 1991 to December 2014, together with an evaluation of demographic variables, hospitalization duration and complications and (ii) analysis of the circulating VEGF and sVEGFR-1 levels in PF patients with erythroderma by ELISA. The controls included patients with pemphigus vulgaris or psoriasis. RESULTS: We observed higher serum VEGF levels in PF patients during erythroderma than during the non-erythrodermic phase. PF patients showed increased serum levels of sVEGFR-1 during the erythrodermic phase in comparison to controls. Interestingly, the sVEGFR-1 and antidesmoglein-1 levels were positively correlated during the non-erythrodermic period. CONCLUSION: Erythroderma, which represents one clinical form of PF, implies more severe outcomes. The circulating levels of VEGF, a potent endothelial activator, are increased in PF patients with erythroderma; this result suggests the contribution of the blood vessel endothelium to the pathogenesis of this clinical syndrome. Interestingly, our findings showed a positive correlation between the sVEGFR-1 and antidesmoglein-1 antibody levels, indicating a suppressive response to VEGF augmentation during the erythrodermic phase of PF.
Assuntos
Dermatite Esfoliativa/complicações , Pênfigo/sangue , Fator A de Crescimento do Endotélio Vascular/sangue , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pênfigo/complicaçõesAssuntos
Glaucoma/etiologia , Glaucoma/cirurgia , Neoplasias da Íris/complicações , Nevo Pigmentado/complicações , Idoso , Glaucoma/diagnóstico , Implantes para Drenagem de Glaucoma , Humanos , Pressão Intraocular , Neoplasias da Íris/diagnóstico , Masculino , Microscopia Acústica , Nevo Pigmentado/diagnósticoRESUMO
CASE REPORT: We describe the unusual diagnosis of a ciliary body medulloepithelioma by histopathology of a subretinal membrane obtained from vitreoretinal surgery of a 10-year-old boy. The patient had a history of perforating trauma OS 2 years earlier, and both fundus exam and B-scan ultrasound revealed only a retinal detachment with a subretinal membrane. No detectable mass was present. DISCUSSION: The membrane removed from underneath the peripheral retina revealed a blue cell tumor confirmed by histopathology and immunohistochemistry to be a primitive neuroectodermal tumor. Currently, the patient has been followed for 5 years with no signs of recurrence.
Assuntos
Corpo Ciliar/patologia , Ferimentos Oculares Penetrantes/complicações , Tumores Neuroectodérmicos Primitivos/complicações , Neoplasias Uveais/complicações , Catarata/etiologia , Criança , Corpo Ciliar/cirurgia , Diagnóstico Diferencial , Ferimentos Oculares Penetrantes/diagnóstico por imagem , Reações Falso-Negativas , Seguimentos , Humanos , Fotocoagulação , Masculino , Tumores Neuroectodérmicos Primitivos/diagnóstico , Tumores Neuroectodérmicos Primitivos/patologia , Tumores Neuroectodérmicos Primitivos/cirurgia , Indução de Remissão , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/etiologia , Retinoblastoma/diagnóstico , Fatores de Tempo , Tomografia Computadorizada por Raios X , Ultrassonografia , Neoplasias Uveais/diagnóstico , Neoplasias Uveais/patologia , Neoplasias Uveais/cirurgia , VitrectomiaRESUMO
PURPOSE: To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype-genotype correlation in these patients. METHODS: A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBIgene were amplified by polymerase chain reaction followed by direct sequencing on both strands. RESULTS: Five different mutations in the TGFBIgene were found in the probands. We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W. In three of the 11 studied families there was no mutation in exons 4 and 12. CONCLUSIONS: This is the first report of mutations in the TGFBIgene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBIgene screening should be considered in the diagnosis of corneal dystrophy.
Assuntos
Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Mutação , Fator de Crescimento Transformador beta/genética , Sequência de Bases , Análise Mutacional de DNA/métodos , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase/métodosRESUMO
Entre 1972 e 1986, do total de 1.780 pacientes com uveíte, 6 pacientes (0,4%) foram diagnosticados como portadores de oftamia simpática e tratados no centro de uveítes da Escola Paulista de Medicina (Hospital Säo Paulo), Brasil. Dois eram do sexo feminino, sendo três brancos, um preto, um índio e um oriental. A idade média dos pacientes foi de 31 anos (variando de 5 a 75 anos) e o tempo decorrido entre o trauma (acidental em 4 e cirúrgico em 2) foi de 2 a 8 meses em 5 pacientes e de vários anos no sexto. Cinco dos 6 olhos acidentados apresentaram mesmo no final do tratamento amaurose neste olho e o outro paciente C.D. a 1 metro. No olho näo traumatizado 3 pacientes terminaram com visäo inferior a 20/200. A inflamaçäo estava clinicamente ausente em 2 dos olhos traumatizados tendo o diagnóstico sido confirmado por exame histológico em parte dos olhos examinados (4/6). Todos os pacientes receberam corticóide sendo que ciclofosfamida e clorambucil foram associados a dois pacientes distintos