Search

Background: Dermatology journals play an essential role in the distribution and promotion of scientific and medical information. Despite this, there are little data on governance structure with respect to its editors, owners, and journal boards that oversee the day-to-day operations for these entities. Objective: This study aimed to explore the current governance structure of dermatology journals and best practice recommendations. Methods: The editors-in-chief of the major dermatology journals participated in an online survey of 29 questions to examine general statistics of each journal, open access model, governance structure, and process for editor selection or dismissal. Results: Of the 52 journal responses, 29 (55.8%) are society-owned journals with 19 (65.5%) primarily governed by a society board, while 18 (34.6%) have an advisory committee or alternative body. Most editor(s)-in-chief (56.9%) serve between 3- and 5-year terms, while 84.6% have the option of at least one renewal. Even though the selection, evaluation, and dismissal processes differed between the journals, generalized best practice recommendations were developed to help improve their overall organization and management. Conclusions: The oversight structure of dermatology journals varies, and some do not follow current best practice recommendations. Transparency regarding leadership, governance, and due process is needed to maintain editorial independence and integrity.

BackgroundPrevious case–control studies have suggested that environmental factors including exposure to pesticides and organic materials, diet and medications have an important role in the pathogenesis of pemphigus vulgaris. These studies lacked geographical population controls and had less than three controls per case.ObjectiveTo identify environmental and occupational risk factors associated with the development of pemphigus vulgaris (PV) and bullous pemphigoid (BP).MethodCases were patients with PV (n = 25) and BP (n = 29) recruited from 2009 to 2017. Controls for PV (n = 72) and BP (n = 84) were recruited from the general population via electoral commission matching, matched for age, sex, residential location, and ethnicity. Data about demographics, environmental exposures and occupational exposures, was collected using a structured questionnaire. Conditional logistic regression analysis was undertaken using SPSS software to identify significant variables.ResultsSignificant factors associated with PV included the daily consumption of leeks (odds ratio (OR) 3.6; p = 0.025), mustard oil (OR = 4.4; p = 0.049), tomatoes (OR = 4.735; p = 0.032), multivitamins (OR 3.6; p = 0.009), alcohol (0.039), and calcium supplements (OR = 44, p

Detlef Zillikens, MD, director and chair of the Department of Dermatology at the University of Lübeck, Lübeck, Germany, died in September 2022, aged only 64. He dedicated his professional life to autoimmune blistering diseases (AIBDs) and built his department into one of the world’s leading centers for these diseases. Herein, his professional life and the impact on the field of AIBDs and the research landscape at the University of Lübeck are addressed. With his warm, integrative, open-minded, ever-optimistic attitude, he was a highly reliable colleague, mentor, and friend to many in the field including each of the authors. Combined with his in-depth knowledge of dermatology, interest in many fields of life science, and hard work, Detlef Zillikens initiated the founding of two independent research institutes, the Lübeck Institute of Experimental Dermatology and the Institute and Comprehensive Center for Inflammation Medicine. He was also instrumental in establishing the Center for Research on Inflammation of the Skin, where in a new research building, over 140 scientists pursue research questions related to skin inflammation. By inviting numerous researchers and clinicians to his department and hosting two large international meetings, he brought the field of AIBDs much closer together and inspired multiple national and international research initiatives. His ideas will live on and grow in many of his colleagues and mentees.

Background: Systemic glucocorticoids are first-line treatment options for autoimmune blistering diseases; however, their long-term use is associated with significant toxicities. Objective: To evaluate the side effects of steroid-sparing agents and compare them with those of steroids. Methods: We searched Cochrane Reviews, Embase, MEDLINE, and Scopus between October 1978 and May 2020 using the keywords “bullous pemphigoid,” “pemphigus,” “autoimmune blistering diseases,” and “side effects.” A total of 31 randomized controlled trials and retrospective case series were critically appraised. Results: This review includes a total of 1685 patients with autoimmune blistering diseases, of whom 781 had bullous pemphigoid and 904 had either pemphigus vulgaris or pemphigus foliaceous. Limitations: A major limitation is that because adjuvants are generally used in combination with steroids, only 12 of the studies reviewed included a “steroid-only” arm to allow for a direct comparison of side effects. Additionally, there is inadequate literature and lack of standardized grade reporting of specific side effects of each steroid-sparing agent. Conclusion: In the future, researchers should consider implementing the Common Terminology Criteria for Adverse Events, version 5.0, for reporting of all side effects to allow for consistency and standardization. It would be useful to have an index similar to the Glucocorticoid Toxicity Index to quantify these side effects.

Abstract Background Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical trial endpoints. Methods Patients with confirmed DEB diagnosis and ≥ 5 measurable wounds were included. The primary outcome was change from baseline in wound surface area (WSA) of 5 selected wounds by 3-dimensional imaging. Secondary endpoints were change from baseline in clinician global assessment (CGA) of WSA, wound characteristics, disease-related questionnaires and instruments (disease severity, quality of life [QoL], pain and disability, and itch), and tolerability of procedures. Results Of 30 enrolled patients, 29 completed the study (of whom, 28 had recessive DEB). Median age was 17.8 years (range, 3.8–58.7). All patients developed new or recurrent wounds during the 4-week study. Of the wounds selected at baseline, 45/150 (30.0%) healed by week 2; an additional 38 healed by week 4, while 8 of those healed at week 2 had recurred by week 4 for a total of 75/150 (50.0%) healed wounds at week 4. Mean values for WSA, CGA, and disease-related questionnaire and instrument scores remained steady during this 4-week observational study. Of the 10 disease-related questionnaires and instruments assessed, the scores for the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB) did not substantially overlap between moderate and severe disease. Between mild and moderate disease, only the EBDASI scores did not substantially overlap. Conclusions These results stress the dynamic nature of wounds, even during a 4-week period of observation, and suggest that a combination of clinician-assessed outcomes and patient-/caregiver-reported outcomes is needed to provide a comprehensive assessment of DEB severity and impact. In addition, these results support the use of EBDASI and iscorEB to monitor disease severity as both produced scores that did not substantially overlap between disease severity strata. Clinical trial registration ClinicalTrials.gov, NCT02178969 . Registered 4 June 2014, https://clinicaltrials.gov/ct2/show/NCT02178969 .

Abstract Background Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age. Methods Patients with a diagnosis of epidermolysis bullosa (EB) or their caregivers completed a one-time online survey administered by EBCare, an international online EB registry. Survey data from respondents self-reporting a diagnosis of EBS were analyzed for clinical and wound manifestations, medication use, and QOL (using Quality of Life in Epidermolysis Bullosa [QOLEB] scores). Differences across age groups were assessed using Kruskal–Wallis and Fisher’s exact tests. Results There were 214 survey respondents with EBS. The mean age was 32.8 years (standard deviation = 19.2). Many respondents reported blisters (93%), recurrent wounds (89%), pain (74%), chronic wounds (59%), itch (55%), and difficulty walking (44%). Mean QOLEB score was 14.7 (standard deviation = 7.5) indicating a “moderate” impact on QOL, and 12% of respondents required regular use of opiates. Findings were consistent in subgroup analyses restricted to respondents with diagnostic confirmation via genetic testing or skin biopsy (n = 63 of 214). Age-stratified analyses revealed differences in disease burden: younger respondents were more likely to self-report severe disease (24% vs. 19% vs. 5% for respondents aged 0–9 vs. 10–17 vs. 18 + , p = 0.001), failure to thrive (9% vs. 15% vs. 3%, p = 0.02), and use of gastrostomy tubes (15% vs. 12% vs. 1%, p

Background: Glucocorticoids are the mainstay of treatment for autoimmune blistering diseases (AIBDs). The Glucocorticoid Toxicity Index (GTI) is a novel, outcome-based glucocorticoid-induced adverse effects monitoring instrument. Objective: To investigate whether the GTI score was able to accurately quantify the glucocorticoid-induced toxicity in patients with AIBDs. Methods: The prospective cohort study included patients with confirmed diagnoses of AIBDs (group1, currently receiving glucocorticoids; and group 2, had glucocorticoids ceased earlier). Data were collected minimally at baseline (V1) and 3 months (V2). Further data from patients who were able to complete the follow-up visits at 6 months (V3) and 12 months (V4) amid the COVID-19 pandemic were also included. GTI scores were calculated after data collection. Results: Analysis of data from V1 and V2 found a linear correlation between GTI score and prednisone doses (P

Pemphigus is a rare group of autoimmune mucocutaneous blistering conditions for which the mainstay of treatment is immunosuppression. This is usually achieved with high dose corticosteroids as well as steroid sparing agents. Rituximab is now recommended as a first line treatment for moderate to severe pemphigus vulgaris, the commonest form of pemphigus, alongside corticosteroids. During the early stages of the COVID-19 pandemic the use of rituximab was reduced in our department due to its long term irreversible B-cell suppression. During the COVID-19 pandemic careful pharmacological selection was undertaken for our pemphigus patients to balance the risks of immunosuppression. To demonstrate this, we report three pemphigus patients who required treatment for COVID-19 and assessment throughout the pandemic. To date there has been limited published data regarding the clinical outcomes of pemphigus patients who have developed COVID-19 infections following rituximab infusions, especially in those patients who have received COVID-19 vaccinations. Following careful personalized consideration, all three pemphigus patients presented received rituximab infusions since the start of the COVID-19 pandemic. These patients had also received COVID-19 vaccinations prior to becoming infected with COVID-19. Each patient had a mild COVID-19 infection after receiving rituximab. We advocate for all pemphigus patients to have a full course of COVID-19 vaccinations. Antibody response to COVID-19 vaccinations should ideally be confirmed by measuring pemphigus patient’s SARS-CoV-2 antibodies prior to receiving rituximab.

Background: Epidermolysis bullosa (EB) is an uncommon group of inherited disorders characterized by skin blistering after friction or mechanical trauma. EB affects patients and their families physically, socially, and emotionally. Objective: This study aimed to assess the family quality of life of these patients using the Family Dermatology Life Quality Index (FDLQI) questionnaire. Methods: In this cross-sectional study, we enrolled caregivers of patients with EB registered at the Molecular Dermatology Research Center, affiliated with Shiraz University of Medical Sciences, up to 2020. Participants filled out a demographic data collection form and the FDLQI questionnaire. The data were analyzed using SPSS software, version 22. Results: Overall, 80 participants, consisting of 65 mothers (81.2%) and 15 fathers (18.7%) as primary caregivers, were enrolled in this study. The average FDLQI score was 19.88 ± 4.71. The FDLQI scores of caregivers of patients with EB simplex was significantly lower than scores observed in those with other types of EB (p < .001). There was a significant positive association between the number of patients with EB in the family and FDLQI score (p = .049). FDLQI scores were lower in caregiving mothers who had a higher education (p < .001) and those who were employed (p < .001). Conclusion: Family quality of life is affected in patients with EB. Families with lower socioeconomic status and unemployed caregivers require special attention. More studies are needed to determine the parameters involved in the quality of life of patients with EB and their families.

IntroductionBullous pemphigoid (BP) is the most common autoimmune subepidermal blistering disease which mainly affects the elderly. It manifests as severe pruritus, urticarial plaques, and tense bullae and is associated with significant mortality. Therapy options for itch in BP patients are limited, mainly because the pathogenesis of itch in BP remains unclear. Sodium cromoglycate was commonly used in the past as an inhaled drug for the management of bronchial asthma and as an oral treatment for children with urticaria pigmentosa. In this study we sought to assess its efficacy in reducing BP associated itch.ObjectiveAssessing the efficacy of oral sodium cromoglycate in reducing BP-related pruritus after stabilization of disease activity.MethodsWe retrospectively reviewed the medical records of patients with a confirmed diagnosis of BP who were treated with sodium cromoglycate. Patient reported outcome measures (PROM) including: BPDAI pruritus, ABQOL and TABQOL, and BPDAI activity score were compared at two points in time: before commencing treatment with sodium cromoglycate or before commencing maximal dose of this treatment, and at least 4 weeks after treatment commencement.ResultsA total of 21 patients met the inclusion criteria. After at least 4 weeks of treatment with oral sodium cromoglycate BPDAI pruritus, ABQOL and TABQOL scores were statistically significantly decreased compared to the scores prior to treatment commencement, P < 0.000, P < 0.008, and P < 0.004, respectively.DiscussionOral treatment with sodium cromoglycate for the management of pruritus in BP patients may be beneficial, however, further prospective studies are required to better assess its efficacy.

IntroductionBullous pemphigoid (BP) is the most common subtype of autoimmune blistering diseases that primarily affects the elderly and is classically defined by the presence of IgG and/or complement C3 against the BP180 and BP230 hemidesmosome proteins. However, most recent studies have introduced the role of specific eosinophil receptors and chemokine mediators in the pathogenesis of BP which are helpful in identifying new targets for future treatments.Areas coveredThis review will focus on the involvement of eosinophils in BP, including the processes that lead to their recruitment, activation, and regulation. Subsequently, covering new therapeutic options in relation to the role of eosinophils. Eotaxin enhances the recruitment of eosinophils in BP, with CCR3 chemoreceptor that is expressed on eosinophils being identified as a key binding site for eotaxin-1. The pathogenic role of IgE and IL-4 in BP is corroborated by successful treatments with Omalizumab and Dupilumab, respectively. IL-5, IL-17 and IL-23 inhibitors may be effective given their roles in promoting eosinophilia.Expert opinionFurther research into inhibitors of eotaxin, IL-4, IL-5, IL-17, IL-23, CCR3, and specific complement factors are warranted as preliminary studies have largely identified success in treating BP with these agents. Learning from novel treatments for other IgG-mediated autoimmune diseases may be beneficial.

Autoimmune bullous diseases are a group of skin disorders resulting from an autoimmune reaction against intercellular adhesion molecules or components of the basement membrane of skin and mucosa. Autoimmune disorders often occur in patients with a history of another autoimmune disease and most autoimmune diseases have a striking female predominance. In this review, we aim to analyze the different associations of autoimmune bullous diseases with other autoimmune diseases and highlight the distinctiveness of the female gender in these associations.

Background: Previous reports have revealed inadequate resident education and textbook representation of dermatological conditions in patients with skin of color (SoC). This suggests that the literature and continuing medical education are important alternative dermatology educational resources to aid in diagnosing and treating patients of color. Objective: This study develops criteria to assess and examine the prevalence of SoC-related publications among top dermatology journals. Methods: We developed the first-ever prespecified criteria that allow for the assessment of diversity in the dermatologic literature. The archives of 52 dermatology journals from January 2018 to October 2020, selected based on Scopus ranking, were analyzed for journal characteristics and content regarding skin and hair of color, diversity and inclusion, and socioeconomic/health care disparities that affect underrepresented populations with SoC. Results: Our study reveals that the average percentage of overall publications relevant to SoC is quite low. The percent of SoC articles ranged from 2.04% to 16.8% with a mean of 16.3%. The top-performing dermatology journals in SoC were, not surprisingly, from countries with populations with SoC; however, the Journal of Cosmetic and Laser Therapy, Australasian Journal of Dermatology, and Journal of the American Academy of Dermatol Case Reports were among the top 10. Research and higher-impact journals were among the lowest in SoC rankings, including the Journal of Investigative Dermatology, Experimental Dermatology, and Journal of the American Academy of Dermatology, and had

Background: Mentorship can have a profound impact on the success and happiness of a mentee while also providing a sense of fulfillment and enrichment for the mentor. Both officially designated and spontaneously chosen mentors can be useful for protégés as they navigate through their training and professional work environment while striving to obtain the optimal work–life balance. Different genders can have variable experiences, in both their personal lives managing family obligations and their professional lives as dermatologists, which may affect the advice and guidance offered. Objective: We studied the impact of gender on the mentor–mentee relationship for both official and spontaneous mentorships through a voluntary survey with a focus on reported outcomes from the perspective of the mentee. Methods: Participants were selected through e-mail invitation via the Women's Dermatologic Society and program directors of the Association of Professors of Dermatology membership lists and given a link to the anonymous survey tool. The survey included 13 questions looking at official and spontaneous mentorships, the role of gender, and success in the dermatology field. Results: Of the 288 respondents, 202 (69.9%) were women, 86 (29.8%) were men, and one identified as other. Of the survey participants, 81% had official mentors and 91% had spontaneous mentors, with the overlap indicating that there may have been a history of multiple mentors per individual. Mentoring had an overall significant positive impact, and 98.5% of those in the spontaneous-mentor group rated the mentor as helpful compared with 87.6% in the official-mentor cohort. For official mentorships, 60.1% involved gender-similar mentors, and of those who had officially designated mentors of any type, 55% indicated a preference for mentors of the same gender. When specifically looking at respondents who participated in same-gender official mentorships, 65.5% preferred this type; of those who had a gender-dissimilar equivalent, only 36.7% indicated a preference for gender similarity in a mentor. Comparably, 59% of protégés with spontaneous mentors had a gender-similar one, and of those who had spontaneous mentors of any type, 59.2% preferred gender similarity. When considering only those in gender-similar spontaneous mentorships, 74.5% favored a same-gender pairing compared with 32.9% of those in the gender-dissimilar group. For female–female official mentorships, 75% preferred a female mentor, similar to 80.5% of the spontaneous-mentor cohort. Conclusion: Spontaneous mentors may provide a greater benefit than officially designated ones. For the majority of the categories, there was no statistical difference between female same-gender mentorships and gender-dissimilar relationships, which is in contrast with previously published literature. Overall, based on the feedback provided, the respondents believed that the quality of the relationship was the most important defining factor, but some noted that same-gender mentorships can provide additional benefit geared toward similar interests and experiences in life.

Many treatments are currently proposed for treating patients with bullous pemphigoid (BP). We assessed treatment modalities of BP depending on the different countries, BP extent, and patients’ comorbidities. We surveyed worldwide experts about how they treat patients with BP. A total of 61 experts from 27 countries completed the survey. Severe and moderate BP were treated with oral prednisone (61.4 and 53.7%, respectively) or superpotent topical corticosteroids (CSs) (38.6 and 46.3%, respectively). Conventional immunosuppressants were more frequently combined with oral prednisone (74.5%) than with superpotent topical CS (37.5%) in severe BP. Topical CSs were mainly used in Europe in mild (81.1%), moderate (55.3%), and severe (54.3%) BP. In the United States of America and Asia, systemic CSs were mainly proposed for treating severe (77.8 and 100%, respectively), moderate (70 and 77.8%, respectively), and also mild (47.1 and 33.3%, respectively) BP. Most experts reduced the initial dose of oral CS in patients with diabetes mellitus (48.1%) or cardiac insufficiency (40.2%) but rarely changed BP treatment in patients with neurological disorders or neoplasia. This survey showed major differences in the way patients with BP are treated between AmeriPac countries (United State of America, Latin America, and Australia) and Asia on the one hand and Europe and the Middle East on the other hand.

Background: The success of clinical trials in Epidermolysis Bullosa (EB) is dependent upon the availability of a valid and reliable scoring tool that can accurately assess and monitor disease severity. The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB) were independently developed and validated against the Birmingham Epidermolysis Bullosa Severity Score but have never been directly compared. Objective: To compare the reliability, convergent validity, and discriminant validity of the EBDASI and iscorEB scoring tools. Methods: An observational cohort study was conducted in 15 patients with EB. Each patient was evaluated using the EBDASI and iscorEB-clinician scoring tools by 6 dermatologists with expertise in EB. Quality of life was assessed using the iscorEB-patient and Quality of Life in EB measures. Results: The intraclass correlation coefficients for interrater reliability were 0.942 for the EBDASI and 0.852 for the iscorEB-clinician. The intraclass correlation coefficients for intrarater reliability was 0.99 for both scores. The two tools demonstrated strong convergent validity with each other. Conclusion: Both scoring tools demonstrate excellent reliability. The EBDASI appears to better discriminate between EB types and disease severities.

Background: Autoimmune bullous diseases are a group of rare, chronic, blistering diseases, with pemphigus vulgaris (PV) being the most common type in Iran. Skin and mucosal involvement and therapy may have a dismal impact on the quality of life of affected patients. Objective: We aimed to assess the validity and reliability of the Farsi (Persian) version of the Autoimmune Bullous Quality of Life (ABQoL) index in Iranian patients with PV. Methods: Forward and backward translation procedures were used to prepare the Persian version of the ABQoL questionnaire. A total of 180 patients were asked to complete the questionnaires, and 24 cases repeated the test after 2 weeks. For validity and reliability, an exploratory factor analysis was performed along with a parallel analysis to determine the number of factors. The multi-trait, multi-method matrix assessed convergent and discriminant validity. To evaluate internal reliability and reliability over time, Cronbach's alpha and intraclass correlation coefficients were reported. Results: Two factors explained a total variance of 54.9% in the data. The first and second factors comprised questions 1–3, 5, 7, 9, and 12–17 (symptoms-social) and questions 4, 6, 8, 10, and 11 (mucosal-psychological), respectively. The internal reliability of the Persian version of the ABQoL index was also acceptable, with a Cronbach's alpha of .855 for total items, .918 for the first factor, and .6 for the second factor. Our results suggest an acceptable convergent and discriminant validity of the Persian version of the ABQoL questionnaire. Conclusion: The Persian version of ABQoL index is a valid and reliable tool to monitor quality of life in patients with PV. Further studies are needed to assess the sensitivity of this instrument to changes in different disease activity and correlation with more general tools for the measurement of quality of life.

Abstract Background Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control arm of the multicenter, randomized, double-blind, phase 3 ESSENCE (NCT02384460) trial. Methods ESSENCE was designed to assess the efficacy and safety of a topical cream formulation of 6% allantoin (SD-101 6%) vs vehicle (SD-101 0%) in patients ≥1 month old who had a diagnosis of EB (simplex, recessive dystrophic, or intermediate junctional) and a target wound 10–50 cm2 present for ≥21 days. Time to complete target wound closure and the proportion of patients with target wound closure over time were analyzed overall and by parameters including patient age and baseline body surface area index (BSAi) of total wound burden (

Background: Milia are superficial keratinous cysts seen as pearly white, dome-shaped lesions 1–2 mm in diameter. Milia are associated with diseases that cause subepidermal blistering, such as hereditary forms of epidermolysis bullosa, epidermolysis bullosa acquisita, bullous pemphigoid, bullous lichen planus, and porphyria cutanea tarda. Multiple eruptive milia are rare and more extensive in number than primary milia. Objective: The aim of this study was to search the literature for cases of blistering diseases with multiple milia formation, especially in areas of the skin where there was no evidence of blistering or trauma, and review the interpretations of their pathogenesis. Methods: We performed a literature search with the terms multiple milia and bullous diseases, pemphigoid, and pemphigus. Results: Very few studies have investigated the origin of milia. Primary milia are thought to originate from the sebaceous collar of vellus hairs, and secondary milia are believed to derive from eccrine ducts more commonly than from overlying epidermis, hair follicles, or sebaceous ducts. Milia secondary to blisters or trauma are speculated to be produced through the regeneration process of disrupted sweat glands or hair follicles. Immunological predisposition, aberrant interaction between the hemidesmosomes, and the extracellular matrix components beneath the hemidesmosomes have been described with regard to the formation of numerous milia during recovery. Multiple milia could be a primary manifestation of dystrophic epidermolysis bullosa in skin areas without evidence of blistering. Conclusion: The exact etiology of multiple milia remains unknown. Immunological predisposition and improper interaction between hemidesmosomes and extracellular matrix components are speculated to play a role in the formation of milia during recovery of bullous lesions in blistering diseases. Still, further studies on the triggering mechanisms of keratinocyte dysfunction in cases of multiple milia formation without evidence of prior blistering are needed.

Abstract Background Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD-101 6% is a topical cream containing 6% allantoin that was developed for treating skin lesions in patients with EB. The aim of this phase 3, multicenter, randomized, double-blind, vehicle-controlled study was to assess the efficacy and safety of SD-101 6% cream versus vehicle (0% allantoin) on lesions in patients with EB. Methods Eligible patients were ≥1 month old, had a diagnosis of EB (simplex, recessive dystrophic, or intermediate junctional) and a target wound 10–50 cm2 in size that was present for ≥21 days. Patients were randomly assigned to SD-101 6% cream or vehicle, which was applied topically once a day to the entire body for 3 months. Primary efficacy endpoints were time to complete target wound closure within 3 months and the proportion of patients who experienced complete target wound closure within 3 months. Post hoc subgroup analyses were conducted by patient age and in those with body surface area index of total body wound burden ≥5% at baseline. Results In total, 169 patients were enrolled and randomly assigned to SD-101 6% (n = 82) or vehicle (n = 87). Baseline demographics and disease characteristics were similar between treatment groups. There were no statistically significant differences between treatment groups in time to target wound closure (hazard ratio, 1.004; 95% confidence interval [CI] 0.651, 1.549; P = 0.985) or proportion of patients with complete target wound closure within 3 months (odds ratio [95% CI], 0.733 [0.365, 1.474]; nominal P = 0.390). A positive trend toward faster wound closure with SD-101 6% versus vehicle was observed in patients aged 2 to

Abstract Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. Methods A 90-question/item survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ≥ 18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey. Results In total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12 months prior to the survey. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. Conclusions Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.

Background:. In autoimmune bullous diseases (AIBDs), autoantibodies loosen molecular adhesions in the skin and/or mucosa and lead to blisters and erosions. Immunosuppressive drugs reduce mortality of the AIBD; therefore, patients will have to live longer with comorbidities. Objective:. This study aims to determine the quality of life of AIBD patients undergoing systemic treatment while investigating the survey’s relationship with various factors. Methods:. In this 2-step cross-sectional study, we initially included 53 consecutive pemphigus patients to investigate reliability and validity of the Persian version of Treatment of Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaire. Then, we conducted the study on 119 AIBD patients, currently under treatment at an AIBD clinic in Iran. Results:. The mean TABQOL score for our patients was 13.87 ± 7.51. The highest TABQOL was for epidermolysis bullosa acquisita (24 ± 8.485) followed by pemphigus foliaceus (20.5 ± 14.181) and the lowest for pemphigus vulgaris (13.24 ± 6.54). There was no significant difference between patients’ TABQOL scores and their gender, history of rituximab injection, and disease severity scores. We only found a positive correlation between TABQOL and prednisolone dose. Conclusion:. Treatments of AIBD considerably impact the quality of life of patients and an impairment in quality of life is correlated to higher doses of prednisolone.

Bruton Tyrosine Kinase (BTK) has a key role in multiple pathways involved in inflammation and autoimmunity. Therefore, BTK has become a new therapeutic target for a group of hematologic and autoimmune disorders. The pharmaceutical industry has invested in the clinical development of BTK inhibitors during the last decade. Ibrutinib, for example, which was the first BTK inhibitor to be used in clinical trials, has two approved indications, mantle cell lymphoma and chronic lymphocytic leukemia, and remains under evaluation for additional indications. Rillzabrutinib (PRN1008) is a new, highly potent and selective inhibitor of BTK. Early studies performed in canine pemphigus demonstrated effectiveness. A proof-of-concept, multicenter, phase 2 trial has recently showed the efficacy and safety of oral rilzabrutinib in pemphigus vulgaris. In this mini review, we present evidence regarding the mechanisms affected by BTK inhibition and the concept of BTK inhibition as an emerging new treatment in pemphigus.

Abstract: Background: The Autoimmune Bullous Disease Quality of Life (ABQOL) and the Treatment of Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaires proved to be reliable tools that measure the disease and treatment burden. Objectives: We aimed to assess the ABQOL and TABQOL in the Arabic population. Methods: The English questionnaires were translated into the Arabic language by a certified translation agency. Eighty autoimmune bullous disease (AIBD) patients were included in this study. Patients were asked to answer 2 questionnaires. After 1 week the same patients were asked to answer the same questionnaires again. Results: The age of the patients ranged from 19 to 81 years (mean=46), 19 males, 61 females. The ABQOL ranged from 0-37 (mean=16.4±9.2). The TABQOL ranged from 2-43 (mean=21.5±9.4). Test-retest reliability was acceptable, Cronbach’s alpha was 0.76 for ABQOL and 0.74 for TABQOL. There was no significant correlation between the age of the patients and ABQOL, r =-0.2, p value was 0.183. There was a significant negative correlation between the age of the patients and the TABQOL, r=-0.2, p value was 0.039. There was a significant negative correlation between the education of the patients and the TABQOL, r=-0.3, p value was 0.007. Study limitations: Small sample size of some AIBDs and patients with severe disease. Conclusion: Objective and valuable measurements such as ABQOL and TABQOL are now available to help physicians understand their patient’s distress and should be used in every patient with AIBD. Younger and less educated patients appear to have more effects on their QOL from the treatments.

Leishmaniasis is one of eight neglected tropical diseases currently endemic in 102 countries/areas around the world. In recent years, cutaneous leishmaniasis (CL) has been increasingly observed among migrants, travelers, ecotourists, and military personnel. Because of its great capacity to mimic other dermatoses, CL is one of the great imitators and can mislead practitioners, which can result in untreated lesions that cause scars. CL is a disfiguring disease, especially for women, and often leaves scars on visible body sites, causing psychological, social, and economic problems. CS is a challenge, especially in nonendemic regions, such as Australia, because experience with diagnosis and management of the disease is limited. Keywords: Cutaneous leishmaniasis, neglected diseases, disfiguring diseases, stigma, women's health

Pemphigoid gestationis, which is also known as herpes gestationis, is a rare, pregnancy-associated, autoimmune bullous disease. Treatment depends on the severity of the disease for each patient and the safety and use of these drugs during pregnancy and breastfeeding must be taken into consideration to guide their use. We describe the therapeutic response of two cases of pemphigoid gestationis that did not respond to conventional immunosuppressive therapy or adverse effects limited their use. Both patients eventually received treatment with intravenous immunoglobulin therapy, which resulted in clinical remission. This clinical improvement with disappearance of lesions and a reduction in pruritus was paralleled in a decline in Bullous Pemphigoid Disease Activity Index activity scores, which is a validated scoring system to measure the related condition, bullous pemphigoid. Keywords: Bullous gestationis, herpes gestationis, BP180, intravenous immunoglobulin, bullous pemphigoid, pregnancy, BPDAI, IVIG

This review examines the work productivity in patients with autoimmune blistering diseases (AIBDs). Work productivity and employment are important aspects of a patient’s life, which can be affected by diseases. The Work Productivity and Activity Impairment Questionnaire (WPAIQ) is a validated instrument that can measure work productivity and assess the impact of disease on patients’ work lives. There is currently a paucity of research that investigates the reason why AIBDs cause such a large impact on work productivity and whether AIBDs affect employment status. Using quality of life (QoL) instruments in conjunction with the creation of an adapted WPAIQ to examine the reasons behind work impairment may further characterize these effects and unveil a deeper understanding of stigmatization in the workplace as a factor of loss of work productivity. Keywords: work productivity, blistering, pemphigus, pemphigoid, employment

The immunoassays that are available for the serological diagnosis of the more common subtypes of autoimmune blistering diseases such as pemphigus vulgaris (PV) and pemphigus foliaceus (PF) include enzyme-linked immunosorbent assay (ELISA) testing to specific antigens desmoglein (Dsg)1 and Dsg3, direct immunofluorescence (DIF), indirect immunofluorescence (IIF), and immunoblotting. A review of the literature on the biochip assay was conducted. Six studies investigated the validity of a new biochip, mosaic-based, IIF test in patients with pemphigus and demonstrated its relatively high sensitivity and specificity (Dsg3: 97.62-100%, 99.6-100%; Dsg1: 90%, 100%) in comparison with ELISA (Dsg3: 81-100%, 94-100%; Dsg1: 69-100%, 61.1-100%), and/or IIF (PV: 75-100%, 91.8-100%; PF: 67-100%) using suitable substrates. So far, validation studies of the biochip have been conducted in four countries (Germany, Italy, Turkey, and Poland) but none in the southern hemisphere. Caucasian patients were recruited as normal controls for these studies; thus, the diagnostic value of the biochip remains uncertain in population groups of other ethnicities. A range of disease control patients were recruited including patients with linear immunoglobulin A dermatosis, psoriasis, discoid lupus erythematosus, lichen planus, and noninflammatory skin diseases (e.g., squamous cell carcinoma, basal cell carcinoma, and vascular leg ulcers). Prospective studies with control patients from a diverse range of ethnicities are needed to better validate the biochip.

Abstract Background Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD. Secondly, to review and evaluate existing ocular and systemic scoring systems for EB/AIBD. Finally, to identify areas where further development of ocular specific tools in EB/AIBD could be pursued. Methods A literature search was performed in October 2017 utilising Medline, Embase, and Scopus databases. The results were restricted by date of publication, between 01.01.1950 and 31.10.2017. The reference lists of these articles were then reviewed for additional relevant publications. Articles of all languages were included if an English translation was available. Articles were excluded if they were duplicates, had no reference to ocular involvement in EB/AIBD or described ocular involvement in other diseases. Results Descriptions of ocular involvement in EB/AIBD were identified in 88 peer-reviewed journal articles. Findings reported include but are not limited to: cicatrising conjunctivitis, meibomian gland dysfunction, dry eye disease, trichiasis, symblepharon, fornix fibrosis, keratopathy, ectropion/entropion, ankyloblepharon, corneal ulceration, visual impairment and blindness. Although scoring systems exist for assessment of OSD in mucous membrane pemphigoid, no such tools exist for the other AIBD subtypes or for EB. Several systemic scoring systems exist in the dermatological literature that are efficacious in grading overall EB/AIBD severity, but have limited inclusion of ocular features. To the best of our knowledge, there is no recognised or validated scoring systems which comprehensively stages or grades the spectrum of ocular manifestations in EB/AIBD. Conclusions There are a range of ocular complications documented in EB and AIBD. Development of a comprehensive ocular scoring system for EB/AIBD which incorporates the delineation between ‘activity’ and ‘damage’ would facilitate more objective patient assessment, improved longitudinal monitoring, comparison of intervention outcomes, and provide commonality for discussion of these patients due to the multidisciplinary nature of their care.

Inherited and autoimmune blistering diseases are rare, chronic, and often severe disorders that have the potential to significantly affect patients’ quality of life. The effective management of these conditions requires consideration of the physical, emotional, and social aspects of the disease. Self-esteem is integral to patients’ ability to cope with their illness, participate in treatment, and function in society. This article discusses quality-of-life studies of patients with blistering diseases with a particular focus on self-esteem issues that patients may face. Keywords: Epidermolysis bullosa, autoimmune blistering disease, quality of life, self-esteem

Abstract Background Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and validation have hampered widespread acceptance and adoption. Objectives To identify all published HR-QoL PROMs in genodermatoses and critically evaluate their development and measurement properties. Methods This systematic review was registered with PROSPERO (CRD42016053301). Ovid Medline, Embase and PsycINFO databases were utilised for literature review using predefined inclusion and exclusion criteria. PROM development was assessed using the COSMIN Checklist and measurement properties were assessed against quality criteria for measurement properties of health standard questionnaires. Results 15 HRQoL PROMs in genodermatoses were identified. Major areas of deficiency in development were internal consistency, reliability and structural validity. No PROM satisfied measurement property standards for agreement, responsiveness or floor and ceiling effects. Four PROMs included Minimal Important Change scores for interpretability. Issues regarding the generalisability of the evaluated PROMs in culturally diverse and paediatric populations remain unresolved. Conclusions The overall standards of development and measurement properties in PROMs in genodermatoses is fair, despite no single instrument meeting all requirements. None are perfectly validated according to COSMIN criteria but seven of the fifteen PROMs may be appropriate pending further validation. The development of culturally appropriate and child-specific variants of PROMs should be a priority in order to increase the utility of patient based outcome measures in genodermatoses in various patient populations.

We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs. The majority of the tumours were well and moderately differentiated. The cumulative risk of SCC development by age 35 was 76.1% for RDEB-Generalized Severe (RDEB-GS) and 10% for RDEB-Generalized Intermediate (RDEB-GI). Amongst those who developed SCCs, their median time to death after first SCC was 5 years for RDEB-GI and 4 years for RDEB-GS. This is the first retrospective study of RDEB-SCC in Australasia.

Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants. Australian patients who were diagnosed with EBS after referral to the Australian National Diagnostic Laboratory for EB were offered mutation screening in the KRT5 and KRT14 genes. From this, 32 different mutations in KRT5 and KRT14 were identified within 39 of 52 pedigrees. Ten of these mutations from 9 different pedigrees were novel, a further fatal case caused by KRT5 E477K is reported and in addition the third reported case of digenic inheritance in EBS was also observed.

Abstract Background In the primary analysis of the ERIVANCE BCC trial, vismodegib, the first US Food and Drug Administration–approved Hedgehog pathway inhibitor, showed objective response rates (ORRs) by independent review facility (IRF) of 30% and 43% in metastatic basal cell carcinoma (mBCC) and locally advanced BCC (laBCC), respectively. ORRs by investigator review were 45% (mBCC) and 60% (laBCC). Herein, we present long-term safety and final investigator-assessed efficacy results in patients with mBCC or laBCC. Methods One hundred four patients with measurable advanced BCC received oral vismodegib 150 mg once daily until disease progression or intolerable toxicity. The primary end point was IRF-assessed ORR. Secondary end points included ORR, duration of response (DOR), progression-free survival, overall survival (OS), and safety. Results At data cutoff (39 months after completion of accrual), 8 patients were receiving the study drug (69 patients in survival follow-up). Investigator-assessed ORR was 48.5% in the mBCC group (all partial responses) and 60.3% in the laBCC group (20 patients had complete response and 18 patients had partial response). ORRs were comparable across patient subgroups, including aggressive histologic subtypes (eg, infiltrative BCC). Median DOR was 14.8 months (mBCC) and 26.2 months (laBCC). Median OS was 33.4 months in the mBCC cohort and not estimable in the laBCC cohort. Adverse events remained consistent with clinical experience. Thirty-three deaths (31.7%) were reported; none were related to vismodegib. Conclusions This long-term update of the ERIVANCE BCC trial demonstrated durability of response, efficacy across patient subgroups, and manageable long-term safety of vismodegib in patients with advanced BCC. Trial registration This study was registered prospectively with Clinicaltrials.gov, number NCT00833417 on January 30, 2009.