Pemphigoid diseases affecting the skin

Pemphigoid diseases are a heterogeneous group of subepidermal autoimmune blistering diseases (sAIBD) that are characterized by autoantibodies against different structural proteins of hemidesmosomes in the epidermal basement membrane zone (EBMZ). The group of pemphigoid diseases affecting the skin include various subtypes, such as bullous pemphigoid (BP), nonbullous pemphigoid (NBP), Brunsting-Perry cicatricial pemphigoid, lichen planus pemphigoides (LPP), pemphigoid gestationis (PG), and anti-p200 pemphigoid. Classification of sAIBD subtypes is mainly based on target antigens and/or clinical manifestations. Pathogenesis of pemphigoid diseases is mediated by predominantly IgG autoantibodies against different structural proteins in the EBMZ. Diagnosis is based on a combination of clinical features, an n-serrated linear pattern of immunodepositions along the EBMZ in direct immunofluorescence microscopy and immunoserology. BP is the most common subtype and most frequently affects elderly, the incidence of BP increased substantially in the past decades. The clinical manifestations of pemphigoid diseases are heterogeneous and represent a clinical spectrum. The typical presentation of BP is a severe pruritus with a predominantly cutaneous lesions consisting of tense blisters or vesicles, erythema and urticarial plaques. In NBP blistering is absent, while the pruritus is severe, and erythematous papules, plaques and excoriations may mimick other inflammatory dermatoses. Recommended therapies consists of whole-body application of superpotent topical corticosteroids, or systemic treatment with immunosuppressive or -modulating drugs.</p

A lethal blistering autoimmune disease

Dermatomyositis is an autoimmune disease characterized by chronic inflammation of skin and muscle. Anti-melanoma differentiation-associated gene 5 (MDA5) associated dermatomyositis is a recently described variant that displays a unique dermatological phenotype consisting of punched-out cutaneous ulcers, palmar erythema, papules or blisters at typical sites of dermatomyositis. Moreover, anti-MDA5 associated dermatomyositis patients have an increased risk to develop a rapidly progressive interstitial lung disease with a potentially fatal course. Cutaneous ulcers are an important predictor for the development of interstitial lung disease. We report an illustrative case of anti-MDA5 associated dermatomyositis.</p

A lethal blistering autoimmune disease

Dermatomyositis is an autoimmune disease characterized by chronic inflammation of skin and muscle. Anti-melanoma differentiation-associated gene 5 (MDA5) associated dermatomyositis is a recently described variant that displays a unique dermatological phenotype consisting of punched-out cutaneous ulcers, palmar erythema, papules or blisters at typical sites of dermatomyositis. Moreover, anti-MDA5 associated dermatomyositis patients have an increased risk to develop a rapidly progressive interstitial lung disease with a potentially fatal course. Cutaneous ulcers are an important predictor for the development of interstitial lung disease. We report an illustrative case of anti-MDA5 associated dermatomyositis.</p

Oral Lesions in Autoimmune Bullous Diseases:An Overview of Clinical Characteristics and Diagnostic Algorithm

Autoimmune bullous diseases are a group of chronic inflammatory disorders caused by autoantibodies targeted against structural proteins of the desmosomal and hemidesmosomal plaques in the skin and mucosa, leading to intra-epithelial or subepithelial blistering. The oral mucosa is frequently affected in these diseases, in particular, in mucous membrane pemphigoid, pemphigus vulgaris, and paraneoplastic pemphigus. The clinical symptoms are heterogeneous and may present with erythema, blisters, erosions, and ulcers localized anywhere on the oral mucosa, and lead to severe complaints for the patients including pain, dysphagia, and foetor. Therefore, a quick and proper diagnosis with adequate treatment is needed. Clinical presentations of autoimmune bullous diseases often overlap and diagnosis cannot be made based on clinical features alone. Immunodiagnostic tests are of great importance in differentiating between the different diseases. Direct immunofluorescence microscopy shows depositions of autoantibodies along the epithelial basement membrane zone in mucous membrane pemphigoid subtypes, or depositions on the epithelial cell surface in pemphigus variants. Additional immunoserological tests are useful to discriminate between the different subtypes of pemphigoid, and are essential to differentiate between pemphigus and paraneoplastic pemphigus. This review gives an overview of the clinical characteristics of oral lesions and the diagnostic procedures in autoimmune blistering diseases, and provides a diagnostic algorithm for daily practice.</p

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Nonbullous pemphigoid: A systematic review

BACKGROUND: Cutaneous pemphigoid (bullous pemphigoid) is an autoimmune bullous disease that typically presents with tense bullae and severe pruritus. However, bullae may be lacking, a subtype termed nonbullous cutaneous pemphigoid. OBJECTIVE: To summarize the reported characteristics of nonbullous cutaneous pemphigoid. METHODS: The EMBASE and MEDLINE databases were searched using 'nonbullous cutaneous pemphigoid' and various synonyms. Case reports and series describing nonbullous cutaneous pemphigoid were included. RESULTS: The search identified 133 articles. After selection 39 articles were included, presenting 132 cases. Erythematous, urticarial plaques (52.3%) and papules/nodules (20.5%) were the most reported clinical features. The mean age at presentation was 74.9 years. Histopathology was commonly nonspecific. Linear depositions of IgG/C3 along the basement membrane zone were found by direct immunofluorescence microscopy in 93.2%. Indirect immunofluorescence on salt split skin was positive in 90.2%. The mean diagnostic delay was 22.6 months. The minority of patients (9.8%) developed bullae during the reported follow-up. LIMITATIONS: Results are mainly based on case reports/small case series. CONCLUSION: Nonbullous cutaneous pemphigoid is an underdiagnosed variant of pemphigoid that most often does not evolve to bullous lesions, and mimics other pruritic skin diseases. Greater awareness among physicians is needed to avoid delay in diagnosis