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BACKGROUND: Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune disease that affects desmoglein-1 and desmoglein-3, leading to intraepithelial vesiculobullous lesions. In the oral mucosa, PV lesions can mimic other diseases such as mucous membrane pemphigoid, other forms of pemphigus, recurrent aphthous stomatitis, erythema multiforme, Stevens-Johnson syndrome, and virus-induced ulcers like herpes simplex virus (HSV), making diagnosis challenging. The co-occurrence of PV with Crohn's disease is rare and predominantly seen in younger patients. The therapeutic mainstay for both PV and Crohn's disease usually involves systemic corticosteroids combined with immunosuppressants and immunobiological drugs. Literature indicates that the use of these drugs, particularly TNF-alpha inhibitors, for managing autoimmune diseases like Crohn's can potentially induce other autoimmune diseases known as autoimmune-like syndromes, which include episodes of lupus-like syndrome and inflammatory neuropathies. There are few cases in the literature reporting the development of PV in individuals with CD undergoing infliximab therapy. CASE REPORT: A young female with severe Crohn's disease, treated with the TNF-alpha inhibitor infliximab, developed friable pseudomembranous oral ulcerations. Histopathological and immunofluorescence analyses confirmed these as PV. The treatment included clobetasol propionate and low-level photobiomodulation, which resulted in partial improvement. The patient later experienced severe intestinal bleeding, requiring intravenous hydrocortisone therapy, which improved both her systemic condition and oral lesions. Weeks later, new ulcerations caused by herpes virus and candidiasis were identified, leading to treatment with oral acyclovir, a 21-day regimen of oral nystatin rinse, and photodynamic therapy, ultimately healing the oral infections. To manage her condition, the gastroenterologists included methotrexate (25 mg) in her regimen to reduce the immunogenicity of infliximab and minimize corticosteroid use, as the patient was in remission for Crohn's disease, and the oral PV lesions were under control. CONCLUSION: Young patients with Crohn's disease should be referred to an oral medicine specialist for comorbidity investigation, as oral PV and opportunistic infections can arise during immunosuppressive therapy. The use of TNF-alpha inhibitors in patients treated for inflammatory bowel disease, such as Crohn's, should be carefully evaluated for potential side effects, including oral PV.
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Doença de Crohn , Herpes Simples , Fatores Imunológicos , Infliximab , Pênfigo , Humanos , Pênfigo/tratamento farmacológico , Pênfigo/complicações , Doença de Crohn/complicações , Doença de Crohn/tratamento farmacológico , Feminino , Herpes Simples/complicações , Herpes Simples/tratamento farmacológico , Fatores Imunológicos/efeitos adversos , Fatores Imunológicos/uso terapêutico , Infliximab/uso terapêutico , Infliximab/efeitos adversos , Adulto , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Doenças da Boca/tratamento farmacológico , Doenças da Boca/complicaçõesRESUMO
Background: Hailey-Hailey disease is a rare autosomal dominant genodermatosis whose cause is the ATP2C1 gene mutation. A prevalence of 1 in 50,000 cases is estimated and it manifests as grouped flaccid vesicles that break easily. The diagnosis is confirmed with the histopathological study creating an appearance called "dilapidated brick wall", identifying dyskeratosis in the form of round bodies and pimples. Treatment ranges from general measures to multiple pharmacological options, with topical corticosteroids being the most commonly used. Clinical case: Male patient diagnosed with Hailey-Hailey disease. On physical examination we observed a dermatosis disseminated to the neck, trunk, axillary and inguinal folds, and intergluteal region, unilateral, asymmetric with a polymorphous appearance, constitution due to exulceration, erythema, some pustules and flaccid vesicles that coalesced to form eczematous and hypertrophic plaques with the presence of fine scales on their surface, with a chronic evolution accompanied by pruritus. We also took the opportunity to review the most relevant information in the literature regarding Hailey-Hailey disease, especially focused on the therapeutic aspect. Conclusions: It is important to take into account that Hailey-Hailey disease is a rare pathology, in order to make a differential diagnosis in daily clinical practice.
Introducción: la enfermedad de Hailey-Hailey es una rara genodermatosis autosómica dominante cuya causa es la mutación del gen ATP2C1. Se estima una prevalencia de 1 por cada 50,000 casos y se manifiesta como vesículas flácidas agrupadas que se rompen con facilidad. El diagnóstico se confirma con el estudio histopatológico que crea una apariencia denominada "pared de ladrillo dilapidada" y se identifica disqueratosis en forma de cuerpos redondos y granos. El tratamiento comprende desde medidas generales hasta múltiples opciones farmacológicas y los corticoesteroides tópicos son los más utilizados. Caso clínico: paciente del sexo masculino con diagnóstico de enfermedad de Hailey-Hailey. A la exploración física observamos una dermatosis diseminada a cuello, tronco, pliegues axilares, inguinales y región interglútea, de manera unilateral, asimétrica, de aspecto polimorfo, constituida por exulceración, eritema, algunas pústulas y vesículas flácidas que confluían para formar placas eccematosas e hipertróficas con escama fina, de evolución crónica, acompañada de prurito. Además, aprovechamos la oportunidad para revisar la informacion más relevante en la literatura con respecto a la enfermedad de Hailey-Hailey, especialmente enfocados en el aspecto terapéutico.es importante tener en cuenta que la enfermedad de Hailey-Hailey es una patología rara, a fin de hacer un diagnóstico diferencial en la práctica clínica rutinaria.
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Pênfigo Familiar Benigno , Humanos , Pênfigo Familiar Benigno/diagnóstico , Pênfigo Familiar Benigno/patologia , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal form, and anti-Dsg1 and 3 in the mucocutaneous form. Anti-Dsg3 autoantibodies have been rarely reported in PF. OBJECTIVES: To determine the factors associated with the production and pathogenicity of anti-Dsg3 in PF. METHODS: Comparative analytical study of three patients groups: 16 PF-anti-Dsg3+, and 42 PF-anti-Dsg3(-) and 22 PV treatment-naïve cases. Serum was used in the anti-Dsg1 and 3 ELISA, and in immunoblotting (IB) with human epidermis extract. The expression of Dsg1 and 3 in paraffin sections was analyzed by immunohistochemistry (IHC). HLA-DRB1 alleles were compiled from a database. RESULTS: In the PF-anti-Dsg3+ group: age range similar to that of the PV group (pâ¯>â¯0.9999); predominance of the generalized form of PF (pâ¯=â¯0.002); anti-Dsg3 titers lower than those of PV (pâ¯<â¯0.0001); IB confirmed Dsg3 identification in one (8.33%) of 12 patients; IHC showed exclusive cytoplasmic internalization of Dsg1; HLA-DRB1 alleles of susceptibility to PF, with the absence of alleles associated with PV, in the five typed patients. STUDY LIMITATIONS: Most of the patients in the PF-anti-Dsg3+ group were undergoing treatment. CONCLUSION: The presence of anti-Dsg3 antibodies in PF was related to older age (comparable to that of PV) and the generalized form of PF. The non-pathogenicity of anti-Dsg3 antibodies in PF can be attributed to the low serum anti-Dsg3 titers, the lack of Dsg3 internalization as detected by IHC, and the absence of PV-associated HLA-DRB1 alleles.
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Autoanticorpos , Desmogleína 1 , Desmogleína 3 , Imuno-Histoquímica , Pênfigo , Humanos , Pênfigo/imunologia , Desmogleína 3/imunologia , Autoanticorpos/imunologia , Autoanticorpos/sangue , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Desmogleína 1/imunologia , Ensaio de Imunoadsorção Enzimática , Adulto Jovem , Immunoblotting , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB1/imunologia , Idoso de 80 Anos ou mais , AdolescenteRESUMO
BACKGROUND: Oral lesions of immune-mediated and autoimmune diseases have been well-documented, but studies from Brazil are limited. The varied spectrum of oral lesions within this demographic group poses challenges to clinicians, particularly when they occur in isolation. This study aimed to evaluate the occurrence, clinical characteristics, and management of patients with oral lesions of immune-mediated and autoimmune diseases at a single center in Brazil. METHODS: A retrospective cross-sectional study was conducted from 2010 to 2022. Clinicodemographic data, histopathological features, and treatment modalities were analyzed descriptively and analytically. RESULTS: Of the 3,790 oral and maxillofacial lesions diagnosed, 160 (4.2%) were confirmed as immune-mediated or autoimmune diseases. The population surveyed predominantly consisted of women (73.7%), with a mean age of 60.2 years. Oral lichen planus (51.3%), mucous membrane pemphigoid (MMP) (23.7%), and pemphigus vulgaris (PV) (19.4%) were the most prevalent lesions. The buccal mucosa (59.4%) was predominantly affected, with pain reported in 46.2% of cases, notably in individuals with PV and MMP. The average time to disease stabilization post-local and/or systemic corticosteroid therapy was 15.8 months for systemic lupus erythematosus, 8.7 months for MMP, and 6.5 months for PV. CONCLUSION: Although oral lesions related to immune-mediated and autoimmune diseases are uncommon, their diverse clinicopathological aspects require multidisciplinary management.
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Doenças Autoimunes , Doenças da Boca , Humanos , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Masculino , Estudos Transversais , Doenças Autoimunes/patologia , Brasil/epidemiologia , Doenças da Boca/patologia , Idoso , Adulto , Adulto Jovem , Idoso de 80 Anos ou mais , AdolescenteRESUMO
Pemphigus vulgaris (PV) and mucous membrane pemphigoid (MMP) are bullous autoimmune diseases that reach the oral mucosa and have common clinical features. The objective of the study was to present and compare the clinical manifestations of PV and MMP and the results of applied treatments. A case series of a stomatology service from 1985 to 2018. Data collection included epidemiological data, comorbidities, medications in use, duration of symptoms before the first visit, previous treatment, symptomatology, clinical description of lesions, presumptive diagnosis, histopathological description, extraoral manifestations, final diagnosis, treatment and follow-up. The medical records of 25 patients were analysed, 19 of whom were diagnosed with MMP and 6 with PV. The female gender was prevalent in MMP (84 %) and the male gender in PV (67 %). More than 60 % of patients complained of pain at their first visit. Patients with MMP took on average 6 months to seek professional help and patients with PV, about 2 months. Desquamative gingivitis was the most common lesion (63 %) in MMP and non-gingival ulcers (67 %) in PV. Minimal therapy was effective in all cases of MMP, and in PV one individual required minimal adjuvant therapy due to worsening of the case. Patients with PV have more intense signs and oral symptoms and may need more intensive treatment than patients with MMP. The use of topical and/or systemic corticosteroids was sufficient for most cases in both diseases.
Pénfigo vulgar (PV) y Penfigoide de la Membrana Mucosa (PMM) son enfermadades autoinmunes ampollosas que llegan a la mucosa oral y tienen características clínicas comunes. El objetivo de este estudio fue presentar y comparar las manifestaciones clínicas de PV y PMM y los resultados de los tratamientos aplicados. En el análisis se incluyó una serie de casos de un servicio de estomatología de 1985 a 2018. La recolección de información incluyó datos epidemiológicos, comorbilidades, medicamentos en uso, duración de los síntomas antes de la primera visita, tratamientos previos, sintomatología, descripción clínica de las lesiones, diagnóstico presuntivo, descripción histopatológica, manifestaciones extraorales, diagnóstico final, tratamiento y seguimiento. Se analizaron las historias clínicas de 25 pacientes, 19 de los cuales fueron diagnosticados de PMM y 6 de PV. El sexo feminino fue prevalente en PMM (84 %) y el sexo masculino en PV (67 %). Más del 60 % de los pacientes se quejaron de dolor durante la primera consulta. Los pacientes con PMM tardaron en promedio 6 meses en buscar ayuda profesional y los pacientes con PV, alrededor de 2 meses. La gingivitis descamativa fue la lesion más común (63 %) en PMM y las úlceras non gengivales (67 %) en PV. La terapia mínima fue efectiva en todos los casos de PMM, y en PV un individuo requirió terapia adyuvante mínima debido al empeoramiento del caso. Los pacientes con PV tienen signos y síntomas orales más intensos y pueden necesitar un tratamiento más intensivo que los pacientes con PMM. El uso de corticosteroides tópicos y/o sistémicos fue suficiente para la mayoría de los casos en ambas enfermedades.
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Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a "dilapidated brick wall", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.
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Pênfigo Familiar Benigno , Humanos , Pênfigo Familiar Benigno/diagnóstico , Pênfigo Familiar Benigno/terapia , Pênfigo Familiar Benigno/patologia , Pênfigo Familiar Benigno/tratamento farmacológico , Diagnóstico Diferencial , Feminino , MutaçãoAssuntos
Penfigoide Mucomembranoso Benigno , Pênfigo , Humanos , Doenças da Boca/epidemiologia , Mucosa Bucal/patologia , Penfigoide Mucomembranoso Benigno/epidemiologia , Penfigoide Mucomembranoso Benigno/diagnóstico , Penfigoide Mucomembranoso Benigno/imunologia , Pênfigo/epidemiologia , Pênfigo/diagnóstico , PrevalênciaRESUMO
Pemphigus foliaceus (PF) is an autoimmune blistering disorder which affects the superficial layers of the epidermis with rare mucosal involvement. We present the case of a 12-year-old girl with PF involving the eyes and eyelids. A literature review of pediatric nonendemic PF revealed another two cases with ocular manifestations. Eyelid involvement is an uncommon feature of PF that should be properly identified and treated.
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Doenças Palpebrais , Pênfigo , Criança , Feminino , Humanos , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/patologia , Pálpebras/patologia , Pênfigo/diagnóstico , Pênfigo/patologiaRESUMO
Pemphigus, an autoimmune intraepidermal bullous disease group with roughly eight distinct forms, includes pemphigus vulgaris (PV) and pemphigus foliaceus (PF) as its predominant global forms. Despite the increased utilization of global health records and reporting systems, epidemiological data remain limited and poorly categorized. Therefore, this study aimed to conduct a review to track, identify, and characterize cases of PV and PF published and categorized worldwide. A research question was formulated; studies were selected based on the inclusion criteria; and data from these publications were systematically collected, summarized, and presented using narrative descriptions. The search strategy yielded 3,212 articles, of which 95 underwent critical analysis and data extraction. Studies from 52 countries contributed to the dataset, covering various pemphigus variants. Notably, only two countries, Iran (18.87%) and South Korea (11.43%), accounted for approximately a third of the reported PV cases, while Brazil contributed 40.25% of the foliaceus variants cases documented in the literature. These findings offer valuable insights into the global distribution of pemphigus and inform future research and healthcare efforts.
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Doenças Autoimunes , Pênfigo , Humanos , BrasilRESUMO
Abstract Background: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. Objective: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. Methods: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. Results: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). Study limitations: The assessed population comes from a tertiary care service that is not a reference for the entire state. Conclusions: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.
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BACKGROUND: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. OBJECTIVE: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. METHODS: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. RESULTS: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (pâ¯=â¯0.001), patient occupation (pâ¯=â¯0.010), area of residence (pâ¯=â¯0.000), forests (pâ¯=â¯0.000) and rivers/streams close to the dwelling (pâ¯=â¯0.001) and the number of systemic medications required to control the disease (pâ¯=â¯0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (pâ¯=â¯0.030). STUDY LIMITATIONS: The assessed population comes from a tertiary care service that is not a reference for the entire state. CONCLUSIONS: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.
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Pênfigo , Dermatopatias Vesiculobolhosas , Humanos , Pênfigo/tratamento farmacológico , Brasil/epidemiologia , Estudos TransversaisRESUMO
BACKGROUND: Infections are a major cause of morbidity and mortality in patients with pemphigus vulgaris (PV). One of the most common infections in these patients is candidiasis. This is probably due to the use of systemic immunosuppressants, including oral and intravenous corticosteroids, mainly in megadoses (pulse therapy), although it is unknown if there are other associated factors, in addition to immunosuppressive treatment. We determine the factors associated with candidiasis in PV patients in two second-care level hospitals in Mexico. METHODS: We reviewed 100 cases with PV. Cases were randomly selected from the databases of two second-care level hospitals between January 2010 and December 2019 (10 years). The primary endpoint was the incidence of candidiasis in patients with PV. RESULTS: One hundred patients with PV were enrolled in this retrospective study. Candidiasis was observed in 79 patients (79%). A maximum corticosteroid dose of 55 mg/day during the last year (p = 0.001) and a higher neutrophil/lymphocyte ratio were associated with candidiasis in patients with PV (p = 0.001). CONCLUSION: Risk factors favoring candidiasis in patients with PV are not only related to the use of corticosteroids, but also to demographic factors, the activity of the disease, and the systemic inflammation associated with autoimmunity.
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O pênfigo vulgar (PV) é uma doença autoimune que acomete o tecido epitelial dos indivíduos afetados. As manifestações orais são frequentemente os primeiros sinais observados da doença. Objetivou-se apresentar um caso clínico de pênfigo vulgar em uma paciente de 39 anos de idade, atendida em um serviço hospitalar de referência do estado de Pernambuco, Brasil. A paciente queixava-se de lesões dolorosas na cavidade bucal há aproximadamente 1 mês, de progressão rápida. Ao exame clínico intrabucal, realizou-se o teste de Nikolsky, com resultado positivo. Em seguida, realizou-se biópsia incisional, confirmando a hipótese diagnóstica clínica de PV. A paciente recebeu o tratamento multiprofissional e foi medicada para o controle da doença, com melhora significativa do quadro clínico. O diagnóstico precoce da doença pelo profissional é importante, seguida de uma abordagem multiprofissional para um correto diagnóstico da patologia, possibilitando remissão da sintomatologia e melhora da qualidade de vida dos pacientes... (AU)
Pemphigus vulgaris (PV) is an autoimmune disease that affects the epithelial tissue of affected individuals. Oral manifestations are often the first signs observed of the disease. We aimed to present a clinical case of pemphigus vulgaris in a 39-year-old patient seen at a reference hospital service in the state of Pernambuco, Brazil. The patient complained of painful lesions in the oral cavity for about 1 month, with rapid progression. Upon intraoral clinical examination, the Nikolsky test was performed, with a positive result. An incisional biopsy was then performed, confirming the clinical diagnosis of PV. The patient received multiprofessional treatment and was medicated to control the disease, with significant improvement in the clinical picture. The early diagnosis of the disease by the professional is important, followed by a multiprofessional approach for a correct diagnosis of the pathology, enabling remission of the symptoms and improving the quality of life of patients... (AU)
El pénfigo vulgar (PV) es una enfermedad autoinmune que afecta al tejido epitelial de los individuos afectados. Las manifestaciones orales suelen ser los primeros síntomas observados de la enfermedad. El objetivo es presentar un caso clínico de pénfigo vulgar en una paciente de 39 años de edad, atendida en un servicio hospitalario de referencia del estado de Pernambuco, Brasil. El paciente se quejaba de lesiones dolorosas en la cavidad oral desde hacía aproximadamente un mes, con una rápida progresión. Tras el examen clínico intraoral, se realizó la prueba de Nikolsky, con resultados positivos. Posteriormente, se realizó una biopsia incisional que confirmó el diagnóstico clínico de PV. El paciente recibió tratamiento multiprofesional y fue medicado para controlar la enfermedad, con una mejora significativa del cuadro clínico. Es importante el diagnóstico precoz de la enfermedad por parte del profesional, seguido de un abordaje multiprofesional para un correcto diagnóstico de la patología, que permita la remisión de los síntomas y la mejora de la calidad de vida de los pacientes... (AU)
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Humanos , Feminino , Adulto , Pênfigo , Boca/patologiaRESUMO
Introduction: Primarily driven by autoreactive B cells, pemphigus foliaceus (PF) is an uncommon autoimmune blistering skin disease of sporadic occurrence worldwide. However, PF reaches a prevalence of 3% in the endemic areas of Brazil, the highest ever registered for any autoimmune disease, which indicates environmental factors influencing the immune response in susceptible individuals. We aimed to provide insights into the immune repertoire of patients with PF living in the endemic region of the disease, compared to healthy individuals from the endemic region and a non-endemic area. Methods: We characterized the B-cell repertoire in i) nontreated patients (n=5); ii) patients under immunosuppressive treatment (n=5); iii) patients in remission without treatment (n=6); and two control groups iv) from the endemic (n=6) and v) non-endemic areas in Brazil (n=4). We used total RNA extracted from peripheral blood mononuclear cells and performed a comprehensive characterization of the variable region of immunoglobulin heavy chain (IGH) in IgG and IgM using next-generation sequencing. Results: Compared to individuals from a different area, we observed remarkably lower clonotype diversity in the B-cell immune repertoire of patients and controls from the endemic area (p < 0.02), suggesting that the immune repertoire in the endemic area is under geographically specific and intense environmental pressure. Moreover, we observed longer CDR3 sequences in patients, and we identified differential disease-specific usage of IGHV segments, including increased IGHV3-30 and decreased IGHV3-23 in patients with active disease (p < 0.04). Finally, our robust network analysis discovered clusters of CDR3 sequences uniquely observed in patients with PF. Discussion: Our results indicate that environmental factors, in addition to disease state, impact the characteristics of the repertoire. Our findings can be applied to further investigation of the environmental factors that trigger pemphigus and expand the knowledge for identifying new targeted and more effective therapies.
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Pênfigo , Humanos , Leucócitos Mononucleares , Vesícula , ImunoglobulinasRESUMO
BACKGROUND: Among the autoimmune diseases causing erosive lesions and blisters on skin and mucous membranes is pemphigus. Within this is a rare subtype known as seborrheic pemphigus or Senear-usher syndrome which is characterized by broken blisters and crusts involving the seborrheic areas. CASE REPORT: A 40-year-old female patient, initially treated in a first level unit for a condition of 45 days of evolution, characterized by thick scabby lesions with an erythematous base, pruritic and painful, located in the center of the face, with posterior extension towards the abdomen, thorax, and extremities. Treatment consisted of prednisolone, with favorable evolution. The biopsy of the lesions with the diagnosis of seborrheic pemphigus. CONCLUSIONS: Senear-usher syndrome is a rare disease of multifactorial origin. Early diagnosis and adequate treatment are decisive factors to avoid the evolution and advanced forms of the disease.
ANTECEDENTES: Dentro de las enfermedades autoinmunes que provocan lesiones erosivas y ampollas en la piel y las mucosas se encuentra el pénfigo. Un subtipo raro de esta enfermedad es el pénfigo seborreico, o síndrome de Senar-Usher, caracterizado por ampollas rotas y costras que afectan las áreas corporales que secretan grasa. REPORTE DE CASO: Paciente femenina de 40 años, atendida inicialmente en una unidad de primer nivel por un cuadro de 45 días de evolución, caracterizado por lesiones costrosas gruesas de base eritematosa, pruriginosas y dolorosas, de localización centro-facial, con posterior extensión hacia el abdomen, tórax y extremidades. El tratamiento consistió en prednisolona, con evolución favorable. La biopsia de las lesiones confirmó el diagnóstico de pénfigo seborreico. CONCLUSIONES: El síndrome de Senear-Usher, o pénfigo seborreico, es una enfermedad excepcional, de origen multifactorial. El diagnóstico oportuno y tratamiento adecuado son factores decisivos para evitar la evolución de la enfermedad a formas avanzadas.
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Pênfigo , Síndromes de Usher , Adulto , Humanos , Vesícula , Pênfigo/diagnóstico , Pênfigo/tratamento farmacológico , Pênfigo/patologia , Pele , FemininoRESUMO
We report the case of a woman who started with a lichenoid eruption, unfavorable evolution, for which a drug reaction was suspected. The final diagnosis was paraneoplastic pemphigus. Multidisciplinary care and evaluation by an Allergist is important in patients with severe skin reactions, suspected of drug reactions, due to the difficulty in establishing the diagnosis.
Se reporta el caso de una mujer que inició con erupción liquenoide, con evolución desfavorable, por lo que se sospechó una reacción medicamentosa. El diagnóstico final fue pénfigo paraneoplásico. Es importante la atención multidisciplinaria y la evaluación de un alergólogo en pacientes con reacciones cutáneas graves, por sospecha de reacciones farmacológicas, debido a la dificultad para establecer el diagnóstico.
Assuntos
Toxidermias , Erupções Liquenoides , Síndromes Paraneoplásicas , Pênfigo , Feminino , Humanos , Toxidermias/diagnóstico , Toxidermias/etiologia , Erupções Liquenoides/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Pênfigo/diagnóstico , PeleRESUMO
Background: Endemic pemphigus foliaceus and endemic pemphigus vulgaris are autoimmune dermatologic disorders endemic to the Peruvian Amazon. Objective: To determine the ultrastructural skin alterations of three healthy subjects with anti DSG-1 antibodies in areas endemic to pemphigus foliaceus and pemphigus vulgaris in the Peruvian Amazon. Patients and methods: Case series carried out from data of three clinically healthy subjects positive to anti DSG-1 antibodies, from Peru. This study consists of a sub-analysis of data gathered in a previous study. Results: Ultrastructural results are presented from the skin biopsies of three clinically healthy patients positive to anti-desmoglein 1 (DSG-1) antibodies. High Resolution Optical Microscopy (HROM) showed the absence of acantholysis. Transmission Electron Microscopy (TEM) showed the widening of intercellular space between keratinocytes, the presence of vacuoles in intercellular space with granular material and cytoplasmic vacuolization, loss of desmosome structure, loss of normal distribution among tonofilaments and lateral separation among cells in the stratum basale. Conclusion: According to our results, healthy subjects that present anti-desmoglein 1 antibodies can develop ultrastructural alterations that are visible through transmission electron microscopy but not through conventional optical microscopy.
RESUMO
Presentación del caso. Se expone el caso de un paciente masculino de 48 años de edad, sin antecedentes médicos conocidos, que presentó múltiples lesiones en forma de placas eritematocostrosas fácilmente descamativas, inicialmente en tórax anterior, que se esparcían sobre el rostro y cuero cabelludo sin afectar las mucosas. Intervención terapéutica. El manejo hospitalario se basó fundamentalmente en el uso de esteroides tópicos y sistémicos, así como el manejo de las infecciones sobreagregadas a las lesiones dermatológicas y el apoyo psicológico del paciente. Se tomó biopsia de piel donde se evidenció la presencia de acantólisis, confirmando el diagnóstico de esta enfermedad autoinmunitaria. Evolución clínica. Luego del tratamiento se logró una reducción de las múltiples lesiones descamativas, el control de la infección local y la recuperación de la piel del paciente, la cual a pesar de aún presentar cicatrices se encontraba con sus funciones restituidas
Case presentation. a 48-year-old male with no known medical history who presented multiple lesions in the form of easily desquamative erythematous and crusted plaques, initially on the anterior thorax, which spread over the face and scalp without affecting the mucous membranes. Treatment. In-hospital management was mainly based on topical and systemic steroids, the management of infections superadded to the dermatologic lesions, and psychological support for the patient. A skin biopsy was taken where acantholysis was evidenced, confirming the autoimmune disease diagnosis. Outcome.After treatment, the multiple scaly lesions were reduced, the local infection was controlled, and the patient's skin recovered although it still had scars, its functions were restored
Assuntos
Humanos , El SalvadorRESUMO
BACKGROUND: Dexamethasone-cyclophosphamide pulse (DCP) and dexamethasone pulse (DP) have been successfully used to treat pemphigus, but DCP/DP outcomes comparing pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are scarce. OBJECTIVE: To compare DCP/DP outcomes in a Brazilian cohort of PV and PF patients according to demographic and clinical data. METHODS: Retrospective analytical cohort study, reviewing medical charts of PV and PF patients (for DCP/DP Phases IâIV consult Pasricha et al.16â18). RESULTS: 37 PV and 41 PF patients non responsive to usual treatments were included similarly for DCP or DP therapy. Disease duration was longer among PF before DCP/DP prescription (pâ¯<â¯0.001); PF required a higher number of monthly pulses to acquire remission in Phase I (median 10 and 6 pulses, respectively; pâ¯=â¯0.005). DCP/DP outcomes were similar in both groups: remission in 37.8% of PV and 34.1% of PF after completed DCP/DP cycles following a median of 13 months (1-56 months follow-up); failure occurred in 13.5% of PV and 14.6% of PF in Phase I; relapse in 13.5% of PV and 12.2% of PF, and dropout in 27% of PV and 24.4% of PF in Phases II to IV. Mild side effects were documented. STUDY LIMITATIONS: The severity of PV and PF disease was not assessed by score indexes. CONCLUSIONS: PV and PF patients presented similar DCP/DP outcomes. DCP/DP should be initiated earlier in PF patients due to the longer duration of their disease in order to decrease the number of pulses and the duration of Phase I to acquire remission.