RESUMO
Anti-p200 pemphigoid is a rare autoimmune subepidermal blistering disease characterized by the presence of circulating immunoglobulin G antibodies directed against laminin gamma-1, a 200-kDa protein located in the lamina lucida of the basement membrane. We review the clinical, histopathological and immunological characteristics of the first 2 cases described in Spain. Anti-p200 pemphigoid shares histopathological and immunopathological findings with epidermolysis bullosa acquisita, the main entity in the differential diagnosis. However, its management follows the same guidelines as those used for bullous pemphigoid. The diagnosis is confirmed by immunoblotting, which is a complex technique available in few centers. We propose the immunohistochemical detection of collagen type IV on the floor of the blister, combined with standard immunofluorescence techniques, as a simple, accessible alternative to differentiate anti-p200 pemphigoid from epidermolysis bullosa acquisita.
Assuntos
Autoanticorpos/análise , Autoantígenos/imunologia , Doenças Autoimunes/diagnóstico , Colágeno Tipo IV/análise , Imunoglobulina G/análise , Laminina/imunologia , Penfigoide Bolhoso/diagnóstico , Coloração e Rotulagem/métodos , Adulto , Doenças Autoimunes/metabolismo , Vesícula/diagnóstico , Vesícula/metabolismo , Complemento C3/análise , Dapsona/uso terapêutico , Diagnóstico Diferencial , Epidermólise Bolhosa Adquirida/diagnóstico , Epidermólise Bolhosa Adquirida/metabolismo , Técnica Direta de Fluorescência para Anticorpo , Técnica Indireta de Fluorescência para Anticorpo , Arterite de Células Gigantes/complicações , Arterite de Células Gigantes/tratamento farmacológico , Humanos , Immunoblotting , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Peso Molecular , Penfigoide Bolhoso/imunologia , Penfigoide Bolhoso/metabolismo , Prednisona/efeitos adversos , Prednisona/uso terapêutico , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/metabolismoRESUMO
BACKGROUND: Epidermolysis bullosa acquisita is an exceedingly rare subepidermal blistering disease caused by antibodies against type VII collagen. Studies summarizing the clinical and immunological features of this disease in large series of patients are scarce. OBJECTIVES: To analyse the clinical and immunopathological characteristics, treatment responses and outcomes of 12 patients with epidermolysis bullosa acquisita from four tertiary hospitals in Spain. METHODS: An extensive retrospective review of clinical charts. RESULTS: The mean age of onset was 48 years and the mean delay to diagnosis was 20·75 months. The classical phenotype occurred in 42% of cases, inflammatory in 42% and mixed in 17%. Mucosal involvement was present in 75%. Linear IgG deposition along the basement membrane zone was consistently present on direct immunofluorescence examination. Indirect immunofluorescence study was positive in 67% of the cases. Frequently associated diseases were neoplasms (25%), inflammatory bowel disease (25%), hepatitis C virus infection (17%) and thyroid dysfunction (17%). Therapeutic responses were variable. CONCLUSIONS: The prevalence of neoplasms was similar to that seen in inflammatory bowel disease. Multicentric prospective studies including larger numbers of patients are required for a better knowledge and management of this disease.
Assuntos
Epidermólise Bolhosa Adquirida/diagnóstico , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Anticorpos Antinucleares/metabolismo , Diagnóstico Tardio , Fármacos Dermatológicos/uso terapêutico , Epidermólise Bolhosa Adquirida/tratamento farmacológico , Feminino , Hospitalização , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha , Centros de Atenção Terciária , Resultado do Tratamento , Adulto JovemAssuntos
Vesícula/patologia , Penfigoide Bolhoso/patologia , Urticária/patologia , Vacinação/efeitos adversos , Anti-Infecciosos/uso terapêutico , Autoanticorpos/imunologia , Vesícula/diagnóstico , Dapsona/administração & dosagem , Dapsona/uso terapêutico , Humanos , Lactente , Masculino , Penfigoide Bolhoso/diagnóstico , Penfigoide Bolhoso/tratamento farmacológico , Penfigoide Bolhoso/imunologia , Dermatopatias Vesiculobolhosas/patologia , Resultado do Tratamento , Urticária/diagnósticoRESUMO
Bullous pemphigoid (BP) is an autoimmune subepidermal bullous disease in which autoantibodies are directed against components of the basement membrane. Most of these antibodies belong to the immunoglobulin G class and bind principally to 2 hemidesmosomal proteins: the 180-kD antigen (BP180) and the 230-kD antigen (BP230). It is the most common blistering disease in the adult population in developed countries, with an estimated incidence in Spain of 0.2 to 3 cases per 100,000 inhabitants per year. The disease primarily affects older people, although it can also occur in young people and even in children. In recent years, advances in clinical practice have led to a better understanding and improved management of this disorder. These advances include new diagnostic techniques, such as enzyme-linked immunosorbent assay for BP180 and new drugs for the treatment of BP, with diverse therapeutic targets. There is, however, still no international consensus on guidelines for the management of BP. This article is an updated review of the scientific literature on the treatment of BP. It focuses primarily on evidence-based recommendations and is written from a practical standpoint based on experience in the routine management of this disease.
Assuntos
Penfigoide Bolhoso/diagnóstico , Penfigoide Bolhoso/terapia , Algoritmos , Humanos , Guias de Prática Clínica como AssuntoRESUMO
INTRODUCTION: Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies to type VII collagen. The clinical presentation is variable, with skin and mucosal lesions that can cause significant dysfunction. Different treatment options exist, but the results are often unsatisfactory. OBJECTIVE: To review all the cases of epidermolysis bullosa acquisita (EBA) diagnosed at our hospital over a 26-year period. MATERIALS AND METHODS: We performed a retrospective review of the clinical, histologic, and immunologic features of EBA in 9 patients. RESULTS: Mean age at presentation was 37 years and 66.67% of the patients were women. EBA occurred in association with malignant tumors, inflammatory bowel disease, and autoimmune disorders. The most common variant was inflammatory EBA (6 of the 9 cases). In all 9 patients, histology revealed a subepidermal blister and direct immunofluorescence showed linear deposits of immunoglobulin G and C3 in the basement membrane zone. Indirect immunofluorescence performed on salt-split skin substrate was positive in 6 patients and showed a dermal pattern in all cases. Five patients were tested for autoantibodies to type VII collagen using enzyme-linked immunosorbent assay, with positive results in 2 cases. Immunoblotting using recombinant noncollagenous domains (NC1) of type VII collagen was positive in all 6 cases in which it was performed. Response to treatment was variable. CONCLUSIONS: EBA is a rare disease with a variable clinical presentation that can be confused with that of other subepidermal blistering diseases. Correct diagnosis requires a high level of clinical suspicion and the use of all available diagnostic tests. Thorough evaluation of cutaneous and mucosal involvement and prompt initiation of appropriate treatment will ensure the detection and prevention of dysfunction and treatment-related complications.
Assuntos
Epidermólise Bolhosa Adquirida/diagnóstico , Epidermólise Bolhosa Adquirida/imunologia , Adulto , Idoso , Epidermólise Bolhosa Adquirida/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated.
Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Ictiose Ligada ao Cromossomo X/genética , Esteril-Sulfatase/genética , Criança , Comorbidade , Humanos , Masculino , Mutação Puntual , Deleção de SequênciaRESUMO
BACKGROUND: Radiotherapy as a first-choice treatment for in situ extramammary Paget disease has been successfully used. OBJECTIVES: To review the most relevant aspects of radiotherapy as first-choice treatment in selected cases of in situ extramammary Paget disease of the vulva. PATIENTS AND METHODS: Two Caucasian females aged 76 and 92 years with in situ extramammary Paget disease localized in the genital region were treated by means of ortovoltage X-rays: 100 kV, 8 mA, 1.7 mm Al filter, field size of 12-cm cone, and source skin distance of 30 cm. Both patients received 40 Gy, 200 cGy per fraction, five fractions per week. RESULTS: Complete regression of in situ extramammary Paget disease was observed in both patients after radical radiation therapy and neither local recurrences nor internal malignancies were detected. CONCLUSIONS: Radiotherapy is a curative treatment in selected cases of in situ extramammary Paget disease affecting the vulva.
Assuntos
Doença de Paget Extramamária/radioterapia , Neoplasias Vulvares/radioterapia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Doença de Paget Extramamária/patologia , Doses de Radiação , Neoplasias Vulvares/patologiaAssuntos
Psoríase/genética , Receptor 3 Toll-Like/genética , Receptor 7 Toll-Like/genética , Receptor Toll-Like 9/genética , Adulto , Idade de Início , Idoso , Estudos de Casos e Controles , Feminino , Seguimentos , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Psoríase/diagnóstico , Fatores de Risco , Índice de Gravidade de DoençaAssuntos
Acne Vulgar/induzido quimicamente , Antidepressivos Tricíclicos/efeitos adversos , Dibenzocicloeptenos/efeitos adversos , Doença Iatrogênica , Acne Vulgar/patologia , Adulto , Antidepressivos Tricíclicos/uso terapêutico , Biópsia por Agulha , Transtorno Depressivo/tratamento farmacológico , Dibenzocicloeptenos/administração & dosagem , Feminino , HumanosRESUMO
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic mutation of the folliculin gene.
Assuntos
Estrona/genética , Éxons/genética , Mutação , Dermatopatias/genética , Humanos , Masculino , Pessoa de Meia-Idade , Dermatopatias/patologia , SíndromeRESUMO
Amicrobial pustulosis of the folds is a rare disorder characterized by a recurrent sterile pustular rash mainly affecting the skinfolds, scalp, and periorificial regions such as around the external auditory meatus. Few cases have been reported in the literature, most of them occurring women and all of them associated with some immunological disorder, the most common being lupus erythematosus. We present a new case of amicrobial pustulosis of the folds in a woman; the only immunologic abnormality detected was an elevation of immunoglobulin E. We have also reviewed the 35 cases reported in the literature.
Assuntos
Dermatopatias Vesiculobolhosas/patologia , Adulto , Feminino , HumanosRESUMO
The term livedo reticularis refers to a reddish-violet reticular discoloration of the skin that mainly affects the limbs. It is caused by an interruption of blood flow in the dermal arteries, either due to spasm, inflammation, or vascular obstruction, and is associated with diseases of varying etiology and severity. To establish the cause of livedo reticularis, it is essential to determine its course (chronic, acute, or fulminant), the presence of other cutaneous signs such as nodules, retiform purpura or necrosis, and the possible association of general symptoms or laboratory findings that suggest a particular systemic process. The aim of this review is to describe the diagnosis and treatment of the disease.
Assuntos
Dermatoses da Perna/diagnóstico , Dermatoses da Perna/terapia , Livedo Reticular/diagnóstico , Livedo Reticular/terapia , Algoritmos , Humanos , Dermatoses da Perna/etiologia , Livedo Reticular/etiologiaRESUMO
Autoimmune bullous diseases are relatively uncommon and their treatment -- although generally similar -- may vary depending on the dermatologist. Within this group of diseases, the most common are pemphigus vulgaris and pemphigus foliaceus, bullous and mucosal pemphigoid, linear immunoglobulin A disease, and dermatitis herpetiformis. In recent years, the therapeutic arsenal has been extended by new drugs, some of which have changed the prognosis of these diseases. This article describes current management protocols for these processes as indicated in the literature and derived from the experience of specialized clinics for bullous diseases. We also present the findings from an Internet survey on therapeutic approaches in pemphigus vulgaris answered by more than 40 dermatologists who work primarily in Spanish hospital clinics.