Epidermolysis bullosa acquisita

Abstract Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Skin fragility with bullae, erosions, and milia in areas of trauma characterizes the mechanobullous form of the disease. In the inflammatory form of epidermolysis bullosa acquisita, urticarial inflammatory plaques with tense bullae, similar to bullous pemphigoid, or mucosal lesions can determine permanent scars and loss of functionality in the ocular, oral, esophageal, and urogenital regions. Due to the similarity of the clinical findings of epidermolysis bullosa acquisita with other diseases of the pemphigoid group and with porphyria cutanea tarda, the diagnosis is currently confirmed mainly based on the clinical correlation with histopathological findings (pauci-inflammatory subepidermal cleavage or with a neutrophilic infiltrate) and the demonstration of the presence of anti-collagen VII IgG in situ by direct immunofluorescence, or circulating anti-collagen VII IgG through indirect immunofluorescence and/or ELISA. There is no specific therapy for epidermolysis bullosa acquisita and the response to treatment is variable, usually with complete remission in children and a worse prognosis in adults with mucosal involvement. Systemic corticosteroids and immunomodulators (colchicine and dapsone) are alternatives for the treatment of mild forms of the disease, while severe forms require the use of corticosteroid therapy associated with immunosuppressants, intravenous immunoglobulin, and rituximab.

Pemphigus vulgaris

Abstract: Pemphigus vulgaris is a chronic autoimmune bullous dermatosis that results from the production of autoantibodies against desmogleins 1 and 3. It is the most frequent and most severe form of pemphigus, occurring universally, usually between 40 and 60 years of age. It usually begins with blisters and erosions on the oral mucosa, followed by lesions on other mucous membranes and flaccid blisters on the skin, which can be disseminated. There is a clinical variant, pemphigus vegetans, which is characterized by the presence of vegetating lesions in the large folds of the skin. Clinical suspicion can be confirmed by cytological examination, histopathological examination, and direct and indirect immunofluorescence tests. The treatment is performed with systemic corticosteroids, and immunosuppressive drugs may be associated, among them azathioprine and mycophenolate mofetil. More severe cases may benefit from corticosteroids in the form of intravenous pulse therapy, and recent studies have shown a beneficial effect of rituximab, an anti-CD20 immunobiological drug. It is a chronic disease with mortality around 10%, and septicemia is the main cause of death. Patients need long-term and multidisciplinary follow-up.

Vesiculobullous autoimmune diseases with oral mucosa manifestations: retrospective and follow-up study / Doenças autoimunes bolhosas com manifestação em mucosa oral: estudo retrospectivo e de acompanhamento

ABSTRACT Objective: To conduct a retrospective study on a series of cases of PV and BMMP with manifestations in the oral cavity in order to ascertain prevalence, sociodemographic characteristics, diagnostic maneuvers, treatment and follow-up. Methods: This is a retrospective, descriptive study in which clinical data were collected from the medical records of all cases of PV and BMMP registered and diagnosed, between 1995 and 2015, in the Oral Diagnostic Service of the UFRN Department of Dentistry. Results: The mean age of the total sample (n = 36) was 41.64, with females the most frequent (n = 26; 72.22%) and the cheek mucosa being the site most affected (n = 20; 27.40%). Eight patients (22.22%), including 5 cases of PV and 3 BMMP, were clinically reevaluated. All patients exhibited lesions at the time of follow-up. Prednisone (n=7; 87.5%) and clobetasol propionate (n=8, 100%) were the most widely used drugs in the systemic and topical treatment, respectively. The follow-up period ranged from 5 months to 5 years. Conclusion: The clinical profile of patients in this study was similar to that evidenced in the literature. However, it was found that the oral lesions were more resistant to the treatment used on the patients evaluated.

RESUMO Objetivo: Realizar um estudo retrospectivo em uma série de casos de PV e BMMP com manifestações em cavidade oral com o intuito de verificar suas prevalências, características sociodemográficas, diagnóstico, tratamento e acompanhamento. Métodos: Trata-se de um estudo retrospectivo descritivo no qual os dados clínicos foram coletados a partir dos prontuários de todos os casos de PV e BMMP registrados e diagnosticados, entre 1995 e 2015, no serviço de Diagnóstico Oral do Departamento de Odontologia da UFRN. Resultados: Da amostra total (n=36), a age média foi de 41,64 anos, sendo o sexo female o mais frequente (n=26; 72,22%) e a mucosa jugal o sítio mais afetado (n=20; 27,40%). Oito pacientes (22,22%), dos quais 5 são casos de PV e 3 de BMMP, foram reavaliados clinicamente. Todos os pacientes exibiram lesões no momento do acompanhamento, sendo a prednisona (n=7) e o propionato de clobetasol (n=8) os fármacos mais utilizados no tratamento sistêmico e tópico, respectivamente. O tempo de acompanhamento variou de 5 meses a 5 anos. Conclusão: O perfil clínico dos pacientes da presente pesquisa foi semelhante ao da literatura. No entanto, verificou-se que as lesões orais foram mais resistentes ao tratamento empregado nos pacientes avaliados.

Lúpus eritematoso sistêmico bolhoso em gestante: relato de caso / Bullous systemic lupus erythematosus in a pregnant woman: a case report

O lúpus eritematoso sistêmico pode apresentar inúmeras lesões cutâneas. As lesões bolhosas específicas do lúpus, apesar de raras, apresentam características clínicas e imunopatológicas próprias e implicam em diagnóstico diferencial entre inúmeras patologias bolhosas que podem sobrepor-se ao lúpus eritematoso sistêmico. Apresenta-se um caso de lúpus eritematoso sistêmico bolhoso em gestante.

Systemic lupus erythematosus (SLE) can cause numerous skin lesions. Despite being rare, lupus-specific bullous lesions demonstrate characteristic clinical and immunopathological features and require differential diagnosis among numerous bullous conditions that may overlap with SLE. The present study presents a case of bullous systemic lupus erythematosus (BSLE) in a pregnant woman.

Piodermatite-pioestomatite vegetante: relato de caso e revisão de literatura / Pyodermatitis-pyostomatitis vegetans: case report and review of medical literarture

A piodermatite-pioestomatite vegetante é uma rara dermatose inflamatória de etiologia desconhecida, com típico comprometimento mucocutâneo. Relatamos caso de paciente feminina com lesões pustulosas e vesiculosas em axilas, evoluindo com placas vegetantes e pústulas com agrupamento anular. Houve progressão com comprometimento vulvar, inguinal e mucosas oral, nasal e ocular. Proposto o diagnóstico, optou-se por iniciar prednisona 40mg ao dia, com remissão das lesões após um mês de uso da medicação. A associação com doença inflamatória intestinal ocorre em 70 por cento dos casos. A imunofluorescência é um fator que ajuda a caracterizar a doença, sendo tipicamente negativa. A rápida resposta à terapêutica com corticosteroides sistêmicos é esperada.

Pyodermatitis-pyostomatitis vegetans is a rare inflammatory dermatosis of unknown etiology, with a typical mucocutaneous involvement. We report the case of a woman with pustular and vesicular lesions in the axillae, evolving with vegetating plaques and pustules with annular grouping. The disease progressed with vulvar and inguinal involvement as well as involvement of the oral, nasal and ocular mucous membranes. She started the treatment with prednisone (40 mg/day), with remission of the lesions after one month of use of such medication. Association with inflammatory bowel disease occurs in 70 percent of the cases. Immunofluorescence, which is typically negative, helps to characterize the disease. A rapid response to systemic steroids is expected.

O papel da imunofluorescência direta na fisiopatologia e no diagnóstico diferencial da estomatite aftóide recorrente / The role of immunoflorescence in the physiopathology and differential diagnosis of recurrent aphthous stomatitis

A estomatite aftóide recorrente é doença caracterizada por aparecimento periódico de aftas na mucosa oral, cuja etiologia e fisiopatologia não estão bem explicadas. Estudos recentes com imunofluorescência direta mostram resultados controversos. Alguns revelam que o distúrbio básico está relacionado à imunidade humoral, enquanto outros apontam alterações da imunidade celular. Formas atípicas de estomatite aftóide podem fazer diagnóstico diferencial com doenças vésico-bolhosas como pênfigo vulgar. OBJETIVO: Verificar a presença de imunecomplexos na mucosa de pacientes com estomatite aftóide e utilidade do método no diagnóstico diferencial com dermatopatias bolhosas. CASUÍSTICA E MÉTODO: 23 pacientes portadores de estomatite aftóide, de modo prospectivo, foram incluídos no estudo. Todos foram submetidos à biópsia de mucosa sob anestesia local para retirada de dois fragmentos. Um deles foi enviado para exame histológico e, outro, para ser realizada a imunofluorescência direta. RESULTADOS: As 23 amostras no exame histológico revelaram processo inflamatório inespecífico ulcerado. As amostras enviadas para imunofluorescência resultaram negativas e apenas uma revelou presença de complemento em membrana basal. CONCLUSÃO: Baseado em nossos resultados, concluímos que pacientes portadores de EAR não apresentam depósitos de imunecomplexos na mucosa da cavidade bucal e a imunofluorescência é útil no diagnóstico diferencial entre a doença e dermatopatias bolhosas.

Recurrent aphthous stomatitis (RAS) is a disease characterized by the periodic appearance of aphthous lesions on the oral mucosa, of which etiology and physiopathology are not well explained. Recent studies with direct immunofluorescence show controversial results. Some reveal that the basic disorder is associated with humoral immunity, while others point to changes in cellular immunity. Atypical forms of aphthous stomatitis may have its differential diagnosis carried out with vesicobullous diseases, such as pemphigus vulgaris. AIM: Check the presence of immunocomplexes in the mucosa of patients with aphthous stomatitis and the usefulness of the differential diagnosis method with bullous skin diseases. MATERIALS AND METHODS: 23 patients with aphthous stomatitis were prospectively included in the study. There were all submitted to mucosa biopsy under local anesthesia for the removal of two fragments. One of these was sent to histology and, the other to direct immunofluorescence. RESULTS: The 23 samples from the histology exam revealed an ulcerated inflammatory process. The samples referred to immunofluorescence resulted negative and only one showed the presence of complement in the basal membrane. CONCLUSION: Based on our results, we conclude that the patients with RAS do not show deposits of immunocomplexes in their oral cavity mucosa and immunofluorescence is useful in the differential diagnosis between this disease and bullous skin diseases.