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.

Skin manifestations associated with COVID-19

Abstract This article will address the main aspects of skin manifestations associated with COVID-19, based on a review of the literature published to date. Since the beginning of the pandemic, more than 1,500 articles have been published on the subject. Regarding the pathophysiology, it is believed that the same mechanisms responsible for the disease in the main target organs also act in the skin, although they are not yet fully elucidated. The actual frequency of dermatological manifestations remains uncertain - it can range from 0.2% to 45%, being close to 6% in systematic reviews. Pioneering studies of large case series conducted in European countries and the USA provide the first information on the main skin manifestations associated with COVID-19 and propose classifications regarding their clinical presentation, pathophysiology, as well as their frequencies. Although there is yet no consensus, maculopapular eruptions are considered the most frequent presentations, followed by erythema pernio-like (EPL) lesions. Manifestations such as urticaria, vesicular conditions and livedo/purpura/necrosis are rare. The time of onset, severity, need for specific treatment and prognosis vary according to the clinical presentation pattern. The increasing histopathological description of skin conditions can contribute to the diagnosis, as well as to the understanding of the pathophysiology. Also, in the dermatological field, the relationship between COVID-19 and androgens has been increasingly studied. Despite all the generated knowledge, the actual biological meaning of skin manifestations remains uncertain. Therefore, the exclusion of the main differential diagnoses is essential for the correlation between skin manifestation and COVID-19.

Clinical aspects and therapeutic approach of drug-induced adverse skin reactions in a quaternary hospital: a retrospective study with 219 cases

Abstract Background Adverse drug reactions are frequent, with cutaneous manifestations being the most common. In the hospital environment, the incidence of cutaneous drug reactions varies from 2% to 3%. Objective To analyze the profile of cutaneous drug reactions, relating clinical forms, suspected medications, histopathological alterations, systemic repercussions, treatment and course. Methods Clinical, retrospective and observational study of patients seen by the Dermatology Interconsultation team from January 2013 to December 2016. Results The frequency of cutaneous drug reactions among the evaluated patients was 13.6%, with 219 cases diagnosed. In 65.7%, the reaction was considered mild, of which the most common was exanthema, while in 34.2%, the reaction was considered severe, with DRESS being the main form of reaction(18.2%). Antibiotics (36.5%) and anticonvulsants (10%) were the most involved drugs. In addition to drug discontinuation, systemic corticosteroids were prescribed in 47% of cases and intravenous immunoglobulin (IVIg) in 4.5%. Of the mild forms, in 62%, expectant management and/or exclusive use of symptomatic treatment was used. Study limitations Retrospective study, with limitations inherent to this type of investigation; lack of some information in medical records; long evaluation period, with a possible change in external validity. Conclusion The most frequently identified clinical form was exanthema, and antibiotics and anticonvulsants were the most frequently involved drug classes. About one-third of the patients had severe cutaneous drug reactions, with DRESS being the main one. Cutaneous drug reactions are frequent in clinical practice, and the dermatologist should be called in as soon as possible to assist in the diagnosis and management of these cases.

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.

Consensus on the treatment of autoimmune bullous dermatoses: dermatitis herpetiformis and linear IgA bullous dermatosis - Brazilian Society of Dermatology

Abstract: Dermatitis herpetiformis and linear IgA bullous dermatosis are autoimmune diseases that present with pruritic urticarial papules and plaques, with formation of vesicles and blisters of subepidermal location, mediated by IgA antibodies. Mucosal lesions are present only in linear IgA bullous dermatosis. The elaboration of this consensus consisted of a brief presentation of the different aspects of these dermatoses and, above all, of an updated literature review on the various therapeutic options that were discussed and compared with the authors' experience, aiming at the treatment orientation of these diseases in Brazil. Dermatitis herpetiformis is a cutaneous manifestation of celiac disease, and can be controlled with a gluten-free diet and dapsone. On the other hand, linear IgA bullous dermatosis arises spontaneously or is triggered by drugs, and can be controlled with dapsone, but often requires the association of systemic corticosteroids and eventually immunosuppressants.

Consensus on the treatment of autoimmune bullous dermatoses: bullous pemphigoid, mucous membrane pemphigoid and epidermolysis bullosa acquisita - Brazilian Society of Dermatology

Abstract: Bullous pemphigoid, mucous membrane pemphigoid and epidermolysis bullosa acquisita are subepidermal autoimmune blistering diseases whose antigenic target is located at the basement membrane zone. Mucous membrane pemphigoid and epidermolysis bullosa acquisita can evolve with cicatricial mucosal involvement, leading to respiratory, ocular and/or digestive sequelae with important morbidity. For each of these dermatoses, a literature review covering all therapeutic options was performed. A flowchart, based on the experience and joint discussion among the authors of this consensus, was constructed to provide treatment orientation for these diseases in Brazil. In summary, in the localized, low-risk or non-severe forms, drugs that have immunomodulatory action such as dapsone, doxycycline among others may be a therapeutic option. Topical treatment with corticosteroids or immunomodulators may also be used. Systemic corticosteroid therapy continues to be the treatment of choice for severe forms, especially those involving ocular, laryngeal-pharyngeal and/or esophageal mucosal involvement, as may occur in mucous membrane pemphigoid and epidermolysis bullosa acquisita. Several immunosuppressants are used as adjuvant alternatives. In severe and recalcitrant cases, intravenous immunoglobulin is an alternative that, while expensive, may be used. Immunobiological drugs such as rituximab are promising drugs in this area. Omalizumab has been used in bullous pemphigoid.

Consensus on the treatment of autoimmune bullous dermatoses: pemphigus vulgaris and pemphigus foliaceus - Brazilian Society of Dermatology

Abstract: Pemphigus are intraepidermal autoimmune bullous dermatoses that occur with lesions on the skin and / or mucous membranes. The most frequent types are pemphigus vulgaris and pemphigus foliaceus (classic and endemic). This consensus aims to present a complete and updated review of the treatment of these two more frequent forms of pemphigus, based on the literature and the personal experience of the authors. In moderate and severe cases of pemphigus vulgaris and foliaceus, systemic corticosteroid therapy (prednisone or prednisolone) is the treatment of choice. Adjuvant drugs, usually immunosuppressive drugs (azathioprine, mycophenolate mofetil, methotrexate, cyclophosphamide) may be prescribed as corticosteroid sparers in refractory cases or with contraindications to corticosteroids to minimize side effects. In severe and nonresponsive cases, corticosteroids in the form of intravenous pulse therapy, immunoglobulin and plasmapheresis / immunoadsorption can be administered. Immunobiological drugs, particularly rituximab, appear as a promising alternative. For milder cases, smaller doses of oral corticosteroid, dapsone and topical corticosteroids are options. At the end flowcharts are presented as suggestions for a therapeutic approach for patients with pemphigus vulgaris and pemphigus foliaceus.

Disseminated fusariosis with cutaneous involvement in hematologic malignancies: report of six cases with high mortality rate

Abstract: Fusariosis is due to inhalation or direct contact with conidia. Clinical presentation depends on host's immunity and can be localized, focally invasive or disseminated. Given the severity of this infection and the possibility for the dermatologist to make an early diagnosis, we report six cases of patients with hematologic malignancies, who developed febrile neutropenia an skin lesions suggestive of cutaneous fusariosis. All patients had skin cultures showing growth of Fusarium solani complex, and they received amphotericin B and voriconazole. As this infection can quickly lead to death, dermatologists play a crucial role in diagnosing this disease.

Bullous pemphigoid: a series of 50 cases / Penfigoide bolhoso: série de 50 casos

OBJECTIVES: This study aims to analyze data on the epidemiology, treatment and course of bullous pemphigoid in 50 patients and compare findings to the data already available in the literature. METHODS: Data were collected retrospectively through medical records and analyzed statistically. A review of the literature was conducted using articles indexed in the MEDLINE (via PubMed) database. RESULTS: The mean age at diagnosis was 71.1 years. Comorbidities were observed in almost all cases, and the association between bullous pemphigoid and neurological diseases was present in 18% of patients, in agreement with recent data in the literature. CONCLUSION: Care of comorbidities, especially neurological diseases, which increase the mortality of patients with bullous pemphigoid, is thus essential

OBJETIVOS: Este estudo tem por objetivo analisar dados epidemiológicos, de tratamento e evolução de 50 pacientes com diagnóstico de penfigoide bolhoso e comparar aos dados já existentes na literatura. MÉTODOS: Os dados foram coletados retrospectivamente por meio de prontuários médicos e analisados estatisticamente. Foi realizada revisão da literatura mediante artigos indexados na base de dados MEDLINE (via PubMed). RESULTADOS: A média de idade ao diagnóstico foi de 71,1 anos. Comorbidades foram observadas em quase a totalidade dos casos, e a associação entre penfigoide bolhoso e doenças neurológicas esteve presente em 18% dos pacientes, em concordância com dados recentes da literatura. CONCLUSÃO: Ressaltamos a atenção às comorbidades, sobretudo doenças neurológicas, que aumentam a mortalidade dos pacientes com penfigóide bolhoso

Adult linear IgA bullous dermatosis: report of three cases

Abstract: Linear immunoglobulin A bullous dermatosis is a rare autoimmune disease that usually has an excellent prognosis in childhood; however, its control is more difficult in adults. It presents heterogeneous clinical manifestations and is frequently confused with other bullous diseases such as bullous pemphigoid and Duhring's dermatitis herpetiformis. Dermatologists' awareness of this disease contributes to early diagnosis and appropriate treatment. We thus report three cases of linear immunoglobulin A dermatosis in adults.

Disseminated cryptococcosis with skin lesions: report of a case series

Abstract Cryptococcosis is a common fungal infection in immunocompromised patients, caused by genus Cryptococcus, presenting with meningitis, pneumonia, and skin lesions. Cutaneous presentation can be varied, but specifically in solid organ transplant recipients (iatrogenically immunocompromised), cryptococcosis should always be considered in the differential diagnosis of cellulitis-like lesions, since the delay in diagnosis leads to worse prognosis and fatal outcome. We report four cases of cryptococcosis with cutaneous manifestation not only for its rarity, but also to emphasize the important role of the dermatologist in the diagnosis of this disease.

Vancomycin-associated linear IgA disease mimicking toxic epidermal necrolysis

Abstract Linear IgA dermatosis is a rare subepidermal autoimmune blistering disease characterized by linear deposition of IgA along the basement membrane zone. In the last three decades, many different drugs have been associated with the drug-induced form of the disease, especially vancomycin. We report a case of vancomycin-induced linear IgA disease mimicking toxic epidermal necrolysis. The aim of this work is to emphasize the need to include this differential diagnosis in cases of epidermal detachment and to review the literature on the subject and this specific clinical presentation.

Squamous cell carcinoma arising in a multiple verrucous epidermal nevus

Abstract Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. We report a case of well-differentiated invasive squamous cell carcinoma arising from a multiple verrucous epidermal nevus. Although there is no consensus on prophylactic removal of epidermal nevus, its removal and biopsy should be considered if changes occur.

New drugs, new challenges for dermatologists: mucocutaneous ulcers secondary to everolimus

Everolimus, a mammalian target of rapamycin inhibitor, is an emerging drug, which is being increasingly applied in oncology and solid organ transplantation. Oral ulcers are a frequent side effect associated with this immunosupressor. We report the case of a renal transplant recipient who developed disfiguring oral and perianal ulcers secondary to everolimus's toxicity. This is probably the first report of perianal involvement. Dermatologists need to be aware of the potential mucocutaneous adverse effects related to these new drugs that are becoming evermore common in our clinical practice.

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.

Melanoma developed during pregnancy - A case report

We describe a case of plantar interdigital cutaneous melanoma in a 22-year-old woman who reported changes in a pigmented lesion during pregnancy. Diagnosis was late and evolution unfavourable. The purpose of this report is to draw the attention of dermatologists to the need for careful regular examination of melanocytic lesions in pregnant women, not ignoring possible changes as always physiological.

Non-classical forms of pemphigus: pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus

The pemphigus group comprises the autoimmune intraepidermal blistering diseases classically divided into two major types: pemphigus vulgaris and pemphigus foliaceous. Pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus are rarer forms that present some clinical, histological and immunopathological characteristics that are different from the classical types. These are reviewed in this article. Future research may help definitively to locate the position of these forms in the pemphigus group, especially with regard to pemphigus herpetiformis and the IgG/ IgA pemphigus.

Subcutaneous fat necrosis of the newborn: clinical manifestations in two cases / Necrose gordurosa subcutanea do recem-nascido: manifestacoes clinicas de dois casos

Subcutaneous fat necrosis of the newborn is an unusual form of panniculitis, with few cases described in medical literature. The disease affects newborns at term or post-term, with normal general health. We describe two cases of newborns affected by the disease. One of them already had lesions since birth. Also, we discuss the use of puncture for diagnostic assistance.

A Necrose Gordurosa Subcutânea do Recém-Nascido é uma paniculite incomum com poucos casos descritos na literatura médica. A doença acomete recém-nascidos a termo ou pós-termo, com saúde geral normal. Relatamos dois casos de recém-nascidos acometidos pela doença. Um deles já apresentava lesões ao nascer. Também discutimos o uso da punção para auxílio diagnóstico.

Cutaneous malakoplakia: case report and review / Malacoplaquia cutânea: relato de caso com revisão da literatura

Malakoplakia is a rare acquired disease that can affect many systems but is more common in the urogenital tract. Cutaneous malakoplakia is even rarer. It is far more frequent in immunodeficient patients. We report a case of cutaneous malakoplakia in a kidney transplant patient who had recently stopped receiving immunosuppressive therapy to illustrate a review of the relevant recent literature.

Malacoplaquia é uma doença adquirida rara que pode afetar diversos órgãos e sistemas, mas é mais comum no trato urogenital. O acometimento cutâneo é ainda menos frequente. Atinge principalmente imunodeficientes. Relatamos caso de malacoplaquia cutânea em um paciente transplantado renal que havia recentemente deixado de receber a terapia imunossupressora, a fim de ilustrar uma revisão da literatura recente relevante.