tbuckley/cabot-search huggingface dataset:
SG07 Evaluation of the Foot Function Index in pachyonychia congenita
Authors: Jaimie Oldham, Beth Stuart, Rebecca McCarthy, Janice Schwartz, Holly Evans, David Hansen, Edel O’Toole
Journal: British Journal of Dermatology (2024)

Abstract Pachyonychia congenita (PC) is a rare autosomal dominant disorder caused by variants in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17 (PC-K6a, PC-K6b, PC-K6c, PC-K16, PC-K17). All subtypes are associated with plantar calluses, and 98% with plantar pain. Our aim was to assess the utility of the Foot Function Index (FFI) in quantifying the impact of painful calluses on function in PC. The FFI is a self-administered questionnaire composed of 23 questions. It produces a total score and three subscale scores (activity limitation, disability and pain), each of which range from 0% (no effect) to 100% (maximum effect). Patients from the International Pachyonychia Congenita Research Registry (IPCRR) with confirmed PC were asked to complete the FFI three times over 3 months. As well as the FFI, respondents were asked to document the peak temperature that day and their sex. Data were collected from the IPCRR for age and gene variants. In total, 389 responses were received from 211 patients with PC (125 female, 69 male, 17 question not answered). Their age ranged from 6 to 85 years. Genotypes included PC-K6a (62), PC-K6b (29), PC-K6C (11), PC-K16 (95) and PC-K17 (14). The mean score across different timepoint observations was consistent, with overall mean scores of 40.2% (SD 19.8), 40.6% (SD 19.0) and 38.1% (SD 17.0) across the first, second and third measurements, respectively. All groups have lower overall scores than the KRT16 group (44.4%, SD 17.9), but that difference is only statistically significant for the KRT6B group [−9.93%, 95% confidence interval (CI) −17.9 to −1.96]. The disability score and the activity limitation score also showed lower scores in the other gene groups compared with KRT16 (disability 45.3%, SD 20.8; activity limitation 25.2%, SD 17.7), but only the KRT6B group showed statistically significantly lower scores: −13.0%, 95% CI −21.7 to −2.22 for disability, and −8.25%, 95% CI −15.7 to −0.82 for activity limitation. For the pain score, all gene groups had a significantly lower score than KRT16 (54.1%, SD 20.3), apart from KRT6C. The values were KRT6A −8.99% (95% CI −15.7 to −2.3), KRT6B −12.5% (95% CI −21.3 to −3.8) and KRT17 −14.1% (95% CI −25.8 to −2.4). There was no clear relationship between age, temperature or sex and any FFI score. Overall, the results show a significant impact of PC on foot function. The results suggest that some genotypes have a bigger impact on foot function than others, particularly KRT16 variants. The FFI may be a suitable patient-reported outcome measure in PC clinical trials.
BT22 Online dermatological surveys: are your participants who you think they are?
Authors: Natalie King Stokes, Sarah McCusker, Aoife Daly, Manrup Hunjan, Ashima Lowe, Carolyn Charman, Susannah George, Lea Solman, Esther Burden-Teh
Journal: British Journal of Dermatology (2024)

Abstract Surveys are a valuable research method in dermatology. They have a multitude of applications, particularly in understanding the impacts of skin disease, treatments and services on patients. Increasingly researchers are utilizing online surveys and using social media to advertise. We describe our experience conducting an online survey to explore the experiences of parents and adolescents having teleconsultations for eczema in the UK. The survey was distributed through the Jisc online survey platform and advertised via social media platforms including Facebook, Instagram and Twitter in November 2022. As with many patient surveys, there was a prize draw incentive to win a £50 shopping voucher. Within 24 h, 138 responses were received, a higher response rate than expected. On review of the data, only six responses appeared genuine, with the rest fraudulent or suspicious for being fraudulent (95.7%). Red flags for fraudulent responses included the following: 94 responses had supplied an email address containing a name that did not match the participant’s name, while 30 responses gave an email address consisting of a random combination of letters and numbers. Clusters of survey responses appeared to have been started and completed at the same time, with duplicate answers in free-text boxes. In total, 105 responses contained a duplicate free-text response. Fraudulent responses were inconsistent and illogical; for example, 41 respondents selected that they only had experience of face-to-face appointments, despite having previously selected that they did have experience of a teleconsultation in the survey eligibility screening question. Several aspects of the overall results did not fit with expected demographics; for example, a high proportion of patients had had private appointments (42.8%), a high proportion of children were on systemic treatment (29%) and only 20.3% had been prescribed emollients. Immediate action was taken to close the survey. On review of the literature, fraudulent participation in online research is an increasing problem, which threatens the integrity of data, in addition to wasting time and funding. We discuss measures that researchers can take to prevent fraudulent responses, such as use of CAPTCHA to stop bots and not offering monetary incentives. Researchers should include measures to identify and deal with fraudulent responses in the study protocol, for example including an instruction question (such as select answer ‘b’), free-text questions and repeated questions that can be checked for consistency and logic. We hope that our experience will raise awareness among researchers conducting online surveys in dermatology, to be able to prevent and identify fraudulent data, to protect data validity.
Poster presentationsPS09 User experiences of Melanotan II injection for tanning
Authors: Ning McKenzie, Nathaly Gonzalez, Cathleen Huang, Devin Barzallo, Olivia Ware, Kieron Leslie
Journal: British Journal of Dermatology (2024)

Abstract Melanotan II (MT2) is an injectable melanocortin agonist advertised as a tanning agent, despite not being approved by the Food and Drug Administration. Sold online as a ‘research peptide’, individuals can purchase and reconstitute the lyophilized (freeze-dried) form with bacteriostatic water to inject with insulin needles. While MT2 has been previously studied for erectile dysfunction treatment, its potential adverse effects (dysplastic naevi, renal infarction) and lack of ongoing clinical trials limit scientific research on its effects (Habbema L, Halk AB, Neumann M, Bergman W. Risks of unregulated use of alpha-melanocyte-stimulating hormone analogues: a review. Int J Dermatol 2017; 56: 975–80; Peters B, Hadimeri H, Wahlberg R, Afghahi H. Melanotan II: a possible cause of renal infarction: review of the literature and case report. CEN Case Rep 2020; 9: 159–61). This study aims to understand MT2 users’ motivations, hesitations, side-­effects and tanning effects, and their relationship with healthcare providers. Participants were recruited for this qualitative study through online forums such as Reddit.com, as well as snowballing via personal contacts. Virtual interview audio was recorded, transcribed into text, and coded using thematic analysis with two coders. Twenty-eight participants have been interviewed, aged 18–64 years (mean 38.4, SD 10.2); gender breakdown is 21 cisgender men, 6 cisgender women, and 1 transgender man. Three participants identify as LGBTQ+. Two of the 28 participants identify as Hispanic; all identify as White, with one who also identifies as Native American. All participants started MT2 for tanning, but some emphasized burn prevention as a motivator. Commonly reported side-effects include nausea, reversible darkening of moles, and an increase in libido or erections. All participants had darkening of skin tone, but their sun-exposure habits varied from none to dedicated, timed sun tanning. Dosage and dosage frequency also vary widely. Common topics that emerged include participants being introduced to MT2 through the bodybuilding community and frustration with the lack of available scientific research or medical knowledge regarding MT2. While physicians have reported dysplastic naevi in people using MT2, some participants perceive that MT2 is protective against skin cancer through preventing sunburns. Many patients regularly visit doctors or even dermatologists, but do not openly discuss their MT2 usage due to general distrust or doubt that their providers are knowledgeable enough to help. This provides an opportunity for dermatologists to build trust with patients and encourage harm reduction.
BT21 Teledermatology pathway performance for detection of all skin cancer categories
Authors: Joseph Walls, Per Hall, Louise Mills, Claire Kilford, Gordon Wishart
Journal: British Journal of Dermatology (2024)

Abstract The aim of this study was to audit the performance of a UK nurse-led teledermatology pathway for private patients with skin lesions suspicious of melanoma, basal cell carcinoma (BCC) or squamous cell carcinoma (SCC). Patients with suspicious skin lesion symptoms (change in colour, shape or size; &amp;gt; 7 mm; inflamed or oozing) access the teledermatology pathway without general practitioner referral and are initially seen in private, community clinics by specialist skin cancer nurses trained in lesion detection and dermoscopy. Following a detailed lesion history, digital and dermoscopic images are taken then uploaded to the electronic patient management system for telemedicine reporting by experienced teledermatology specialists. Following telemedicine review, patients are either reassured or advised to attend a consultation with a skin cancer specialist for face-to-face examination with or without biopsy on the same day. Between 1 January 2018 and 31 December 2022, a total of 14 790 patients (6089 male, 8701 female; mean age 42 years, range 18–92) entered the diagnostic pathway. In total, 83% were offered a nurse appointment within 5 working days and 94% within 10 working days. Following telemedicine triage, 12 070 (81.6%) were reassured, and the remaining 2720 (18.4%) were advised to attend a consultant appointment. Of these 2720 patients, 2525 accepted this appointment, with the remaining 195 (0.01% of the total) attending the National Health Service (NHS) or alternative private provider. Of the 2525 who attended for further examination, 1634 underwent biopsy (11.0%) and 550 were diagnosed with skin cancer (cancer detection rate of 3.7%). Of the 550 skin cancers detected, there were 88 melanomas, 439 BCCs, 22 SCCs and one cutaneous B-cell lymphoma. Stage at diagnosis was available for 81 melanomas, with 78 (96%) of these patients diagnosed at American Joint Committee on Cancer (version 8) stage 1 or 2. There were no missed cancers documented during (or since) the audit period, giving a sensitivity of 100%, a specificity of 87.7% and an overall accuracy of 86.5% for the teledermatology cancer pathway. This audit confirms that a community-based and nurse-led teledermatology service for patients with one or more suspicious skin lesions can provide short waiting times to lesion assessment and diagnosis, with 81.6% reassured following telemedicine triage and only 18.4% attending a hospital appointment for further assessment and possible biopsy. The cancer detection rate is lower than in the NHS, but commensurate with the younger demographic of private patients. The early-stage melanoma diagnosis rate of 96% is well above the equivalent rates reported by NHS Digital for men (85%) and women (89%) in 2020. All authors are employed by the pathway provider.
BI27 New-onset hidradenitis suppurativa secondary to combination therapy with programmed cell death ligand -1 inhibitor atezolizumab and vascular endothelial growth factor inhibitor bevacizumab
Authors: Nicole Fagan, Liana Victory, Emily Pender, Brian Kirby, Ali Alsharqi
Journal: British Journal of Dermatology (2024)

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory condition characterized by recurrent inflammatory nodules and abscesses thought to develop via follicular occlusion, a disrupted microbiome and subsequent inflammation and follicular rupture. A 50-year-old man with no prior history of skin disease was referred from hepatology with a 3-month history of recurrent inflammatory nodules of the axillae and bilateral groin. He had been diagnosed with advanced metastatic segment II/III hepatocellular carcinoma and portal vein thrombosis on a background of cirrhosis 7 months previously. He received palliative radiotherapy for T12/L1 spinal metastases and endoscopic banding of grade 2 oesophageal varices. Concomitant treatment with the programmed cell death ligand (PDL)-1 inhibitor atezolizumab and bevacizumab, a vascular endothelial growth factor (VEGF) inhibitor, was commenced 1 month postdiagnosis. After 2 months of combination immunotherapy, the patient reported the development of recurrent inflammatory nodules and abscesses. Examination was consistent with HS Hurley stage II. Of note, the patient had no other risk factors for HS including smoking, sex, family history, comorbidities or raised body mass index. Immune checkpoint inhibitors are associated with a myriad of cutaneous toxicities. Anti-PDL-1-induced HS has been described with nivolumab with an upregulation of the interleukin-17 axis postulated as a mechanism [Ayoubi N, Gerhardt AC, Hennessy K et al. Hidradenitis suppurativa secondary to nivolumab. J Am Acad Dermatol 2022; 87 (Suppl.): AB171]. The occurrence of new-onset HS in patients on checkpoint inhibitors supports the concept of HS as a primary inflammatory disease. Cases of HS have also been reported with sunitinib, a VEGF inhibitor (Montero-Vilchez T, Bueno-Rodriguez A, Salvador-Rodriguez L et al. Could vascular endothelial growth factor inhibitors induce hidradenitis suppurativa? Report of three patients with renal cancer treated with sunitinib. Dermatol Ther 2020; 33: e13306). Although the exact culprit drug in this patient’s case cannot be definitively stated, given the effect that HS has on quality of life, the association of HS with both PDL-1 and VEGF inhibition should be noted along with prompt referral to a dermatologist and initiation of appropriate treatment.
BI28 Invasive streptococcal infection in a patient with HIV
Authors: Sophie Diong, Michéal O’Rourke, Colm Bergin, Niamh Leonard, Bairbre Wynne, Patrick Ormond
Journal: British Journal of Dermatology (2024)

Abstract A spectrum of severity exists in cutaneous infections with group A β-haemolytic streptococci (GABHSs), including life-threatening streptococcal toxic shock syndrome (STSS), which can follow minor trauma to skin or mucosa. We present a case of STSS with resultant necrotizing ecthyma-type infraorbital ulceration and necrotizing lymphadenitis in a patient with HIV. A 37-year-old Nigerian woman of no fixed abode presented with florid head and neck oedema, and vasopressor-dependent hypotension 1 day after accidental ocular inoculation with a camphor-based product, causing excoriation-induced microtrauma to periorbital skin. Of note, she had a background history of treated HIV infection, with undetectable viral load, and end-stage renal disease. Examination revealed generalized craniofacial swelling, with significant periorbital oedema, and bilateral infraorbital ulcers with discharge. Inflammatory markers were raised, with a C-reactive protein of 503 mg L−1. Multiorgan failure (MOF) was noted with a new mixed-pattern liver function derangement and an almost doubling in her baseline creatinine to 833 µmol L−1. Only a small area of epidermal loss (body surface area &amp;lt; 1%) was noted under her chin. Blood cultures were negative, but infraorbital swabs alongside culture biopsy from the infraorbital ulceration yielded Streptococcus pyogenes, a GABHS. Histopathology highlighted ulcerated skin, dermal necrosis and subcutaneous abscesses. The patient was diagnosed with STSS. Intravenous immunoglobulin, systemic steroids and antimicrobials allowed for stabilization. Cutaneous findings were slow to resolve, and complicated by submandibular necrotizing lymphadenitis. Given a prior history of keloidal scarring, secondary intention healing was trialled for the deep infraorbital ecthyma-type ulceration. Unfortunately, almost 2 months after the initial episode, no improvement was seen. Further Pseudomonas superinfection perpetuated ulceration, and full-thickness skin grafting was required, with good cosmetic and functional outcome for our patient. STSS is a superantigen-driven disease secondary to an invasive infection, leading to massive stimulation of T cells via exotoxins, inducing a cytokine cascade causing shock and MOF. While GABHSs are frequent in patients with HIV, the occurrence of STSS is less than expected, likely related to T-helper-cell dysfunction. When GABHSs are observed the disease is frequently protracted. Our case likely comes as a result of our patient’s compliance with HIV treatment, and resultant virological suppression. Ecthyma, a further invasive form of GABHS involving the dermis, carries a risk of scarring. GABHS skin and soft tissue infections are known to be independently associated with homelessness. This compounded the existing challenges of this case, including host immunodeficiency factors and subsequent bacterial superinfection, leading to refractory infraorbital ulcers.
BI26 HIV-associated sarcoidosis as a manifestation of immune reconstitution inflammatory syndrome
Authors: Sophie Diong, Pranav Gnanamoorthy, Michéal O’Rourke, Joanne Byrne, Colm Bergin, Mairin McMenamin, Bairbre Wynne
Journal: British Journal of Dermatology (2024)

Abstract In up to 30% of patients with HIV treated with highly active antiretroviral therapy (HAART), paradoxical reactions occur following immune system recovery, with improvements in CD4 counts and resultant T-helper responses to inflammation – a process known as immune reconstitution inflammatory syndrome (IRIS). Sarcoidosis, a T-helper-cell-mediated disease, has been associated with this state. We present a case of HIV-associated sarcoidosis as a manifestation of IRIS. A 47-year-old South African female patient with HIV and pulmonary sarcoidosis reported a 3-month history of a new rash. She acknowledged intermittent compliance with HAART 8 months prior. Examination revealed an erythematous papular eruption affecting her face and upper extremities. Interferon-γ release assay was negative. Serum angiotensin-converting enzyme was elevated. Serum soluble interleukin-2 receptor was normal, perhaps due to underlying HIV diagnosis. Initial biopsy highlighted non-necrotizing granulomas in keeping with sarcoidosis. Five months later, following a further period of poor HAART compliance, the eruption was more florid, associated with nasal congestion and xerophthalmia. Examination revealed multiple erythematous indurated nodulopapular lesions affecting her nasal bridge, bilateral cheeks and glabella, with scattered erythematous indurated papules affecting the patient’s trunk, neck and limbs. Similar lesions in the scalp were observed, with associated alopecia. Mucous membrane involvement was present with nasal asymmetry, hard palate plaques and florid erythematous conjunctival nodules. No further multisystem involvement was noted on cardiovascular and endocrinology investigations. Treatment has been challenging due to underlying comorbidities and aggressive mucocutaneous disease. Cutaneous features responded to a combination of weaning oral prednisolone, hydroxychloroquine and methotrexate, healing with scarring. Flares have been exacerbated by cutaneous bacterial superinfection with Streptococcus pyogenes. Ocular disease remains recalcitrant, requiring lesional steroids. It has been four decades since the onset of the HIV/AIDS epidemic. Due to advances in pharmacotherapeutics, HIV has transitioned from a life-threatening infection to a chronic condition, bringing comorbidities into focus. Dermatological conditions are extremely common in HIV infection, and cutaneous IRIS manifestations account for up to 75% of all IRIS events. This IRIS manifestation is unique in its latent presentation, occurring months to years after HAART introduction – hypothesized to correlate with recovery of naive T cells. Clinically and histologically, presentations are similar to those of sarcoidosis occurring in patients with no HIV infection. However, comorbidities compounded with side-effects from immunosuppressants pose significant therapeutic obstacles in managing this challenging condition.
H12 A history of evidence-based medicine and dermatology as an early adopter
Authors: Hannah Binns
Journal: British Journal of Dermatology (2024)

Abstract In 1992, a search for evidence-based medicine (EBM) would have only yielded two articles. Now, searching this term in PubMed generates over 276 000 results. But how did the ‘era of evidence-based medicine’ begin and what were its foundations? The concept of using evidence to guide medical practice is thought to date back to Ancient Greece. However, it was not until the 20th century that it started to take hold in modern medicine. Social principles calling for effective healthcare for the masses were a driving force, with British clinical epidemiologist Archie Cochrane (1909–1988) being the first advocate of this practice. Predating Archie Cochrane’s work, the early 20th century’s advancement in statistics and development of the meta-analysis would form the building blocks for modern-day EBM. British statistician Karl Pearson was the first to propose the concept of combining results of individual studies to minimize random error. Later in the 1920s fellow Briton, Ronald Fisher laid the foundation for the systematic approach by developing the statistical method of meta-analysis, first called ‘Fisher’s combined probability test’. In 1976 American statistician Gene Glass coined the term ‘meta-analysis’. By 1989 meta-analysis was changing clinical practice. Sir Ian Chalmers demonstrated that a short course of corticosteroids could drastically reduce complications following delivery of preterm infants. His work, and that of others, highlighted that lives could be saved through the evidence-based approach of performing up-to-date systematic reviews of randomized clinical trials. Meanwhile, in Canada the EBM movement was starting. In 1981 a group led by David Sackett published the first of a series of articles on how to appraise medical literature, influencing the practice of a whole generation. The actual term EBM was announced by Sackett’s mentee Gordon Guyatt in 1992. The levels of evidence that we use today can be attributed to Sackett and his book Evidence-Based Medicine: How to Practice and Teach EBM, which gave clinicians the tools to adopt EBM into everyday practice. Dermatology was an early adopter of EBM. The Cochrane Skin Group (CSG) was founded by Hywel Williams in 1997, with the clear aim of disseminating evidence-based guidelines to prevent, diagnose and treat dermatological disease. The first CSG review was published in 1999, and to date there are 130 active systematic review titles. The work of the CSG elicits tangible effects on international health policy, contributing to national and international guidelines. The work of the CSG is bolstered by the UK Dermatology Clinical Trials Network at the Centre of Evidence Based Dermatology, a group that aims to explore research gaps identified by the CSG reviews.