bluuebunny/crossref_metadata_2025_split huggingface dataset:
PS02 Efficacy of antipsychotics in delusional infestation
Authors: Tang Paul K , Lepping Peter , Lepping Sophie G , Noorthoorn Eric O , Squire Stephen B , Mohandas Padma , Bewley Anthony 
Published: June 2024

Abstract
The 2022 British Association of Dermatologists’ (BAD) guidelines suggest the use of low doses of second-generation antipsychotics as the first-line pharmacological treatment option for adults with delusional infestation (DI). We evaluated the treatment responses associated with different antipsychotics in patients with DI. We undertook a multicentre, retrospective observational study using anonymized electronic patient records from two hospitals in the UK from 1 January 2011 to 1 January 2023. Eligible participants were adults (≥ 18 years) diagnosed with DI treated with an antipsychotic, and had both an assigned baseline and follow-up Clinical Global Impression Scale (CGI-S) score. Participants were excluded if they had known limited or nonadherence to an antipsychotic, or if no CGI-S scores were present at follow-up. First clinic visits before the initiation of an antipsychotic were assigned as the baseline CGI-S score. The last available CGI-S score before the patient either changed antipsychotic or left the clinic for any reason was used to assign the follow-up CGI-S score. The primary outcome was the response to each individual antipsychotic treatment, measured by the difference in the baseline and last available follow-up CGI-S scores. Differences in CGI-S changes between antipsychotic episodes were tested by Anova. In total, 414 patient records were analysed, and data were extracted. The mean age was 61.8 years (SD 14.1). Overall, 170 (41%) of the 414 patients were men and 244 (59%) were women. In total, 156 (38%) of 414 patients were eligible, yielding a total of 315 antipsychotic prescribing episodes. The Anova, ranking in order of treatment response, showed that the highest mean scores (expressing highest treatment response) were observed for amisulpride and risperidone, followed by some distance by quetiapine, aripiprazole and olanzapine (Table). In conclusion, amisulpride and risperidone were associated with a higher treatment response than quetiapine, aripiprazole and olanzapine, and should therefore be considered the first-line treatment options in patients with DI. We thank the BAD for sponsoring this study.TableDifferences in CGI-S scores between baseline and follow-up; data presented as n (%)Risperidone (n = 167)Aripiprazole (n = 46)Amisulpride (n = 46)Olanzapine (n = 28)Quetiapine (n = 25)Chlorpromazine (n = 1)Total (n = 313)+12 (1.2)5 (11)1 (2)1 (4)3 (12%)012 (3.8)   070 (41.9)28 (61)14 (9)20 (71)13 (52)1 (100%)136 (44.9)−161 (36.5)9 (20)10 (22)3 (11)6 (24)089 (28.4)−214 (8.4)4 (9)9 (20)2 (7)1 (4)030 (9.6)−314 (8.4)09 (20)2 (7)2 (8)027 (8.9)−46 (3.6)03 (7)0009 (2.9)−50000000
PS10 A novel framework for the diagnosis, management and terminology of ‘dermatitis artefacta’
Authors: Nancarrow-Lei Rhiannon , Baron Susannah , Ali Rukshana , McPherson Tess 
Published: June 2024

Abstract
‘Dermatitis artefacta’ (DA), or ‘factitious skin disorder’, was first documented in 1909 by Spanish dermatologist Juan de Azúa, known for confronting and challenging his patients {Heras-Mendaza F. [Dermatitis artefacta 100 years ago]. Actas Dermosifiliogr 2009; 100: 657–60 (in Spanish)}. This condition is recognized as challenging, and patients can present a significant burden on health services (Mohandas P, Ravenscroft JC, Bewley A. Dermatitis artefacta in childhood and adolescence: a spectrum of disease. G Ital Dermatol Venereol 2018; 153: 525–34). Although current practice emphasizes understanding ‘why not how’, communications with patients, families and health professionals expose problematic inconsistencies not only across different specialities but also among dermatology colleagues. Specifically, the terms ‘DA’, ‘artefactual’, ‘factious’ and ‘malingering’ carry negative connotations of secrecy, dismissal and judgement. They serve to medicalize the condition, excluding the patient and thereby hindering open and honest communication. It further misrepresents the condition as intentional ‘self-harm’, failing to recognize the hidden underlying psychological distress – a perspective that warrants reconsideration. We present a case series of 10 presentations in children and young people, which highlights specific themes to aid a positive diagnosis and demonstrates a novel way to communicate with successful outcomes. We advocate for a comprehensive rebranding of this condition. It should be considered a functional illness – a physical response to emotional distress and deeper psychological need that may not be readily apparent. The field of psychiatry has witnessed a shift towards less stigmatizing terminology, illustrated by the adoption of ‘dissociative seizures’ in lieu of ‘pseudoseizures’. Particularly within the paediatric patient group, a dissociative phenomenon is likely at play, leading to genuine distress observed when new lesions emerge. The method by which these lesions appear may remain a mystery to both the patient and their families. A positive diagnosis should be made, and communication should prioritize openness, honesty and a patient-centred approach. We propose the term ‘external skin lesions (ESLs)’. ‘ESL’ is more readily accepted and understood by patients and their families than ‘DA’. Rather than focusing on investigating ‘ESL’ methods, attention should be directed towards exploring the underlying psychological causes – triggers, stressors, anxiety, and aspects of home and school life. Reassurance is crucial, providing clarity that this recognized condition arises from external damage, frequently occurring unconsciously as an expression of anxiety, stress or upset. The reassurance should extend to the understanding that there is no concern regarding skin healing, and improvement is likely through collaborative efforts involving family, school, and healthcare teams.
PS11 Assessment of willingness to pay for acne cure across different income groups, age groups, genders and disease severities in a UK secondary-care cohort
Authors: Latt Moe , Salari Yalda , Layton Alison 
Published: June 2024

Abstract
Willingness to pay (WTP) is often used as a marker for burden of disease and health-related quality of life. To date, there are no other large UK studies available investigating WTP for a cure (WTP-cure) of patients with acne in secondary care. This study aims to review whether there are differences in acne WTP-cure across different groups in terms of income, age, gender and severity of disease, in patients presenting to secondary care. This was a single-centre, descriptive study of retrospective data collected from patients with acne referred to a National Health Service dermatology department (n = 1593). Consenting patients provided demographic data and completed a questionnaire quantifying WTP-cure for acne, as well as assessment of monthly income. Acne severity was assessed according to site using the Leeds revised acne grading system (O’Brien S, Lewis J, Cunliffe W. The Leeds revised acne grading system. J Dermatolog Treat 1998; 9: 215–20). Data were analysed using SPSS (IBM, Armonk, NY, USA. Anova and t-tests were used to calculate P-values (critical level 0.05). Lower-income groups demonstrated higher WTP-cure than higher-income groups (up to 128.2 times the monthly post-tax income in the lowest-income group of £10–20 per month, vs. up to 1.2 times in highest-income group of &gt; £3500 per month; P &lt; 0.05). People in younger age groups had higher frequencies of more severe acne at all sites, and lower incomes (P &lt; 0.05). Controlling for income, patients in younger age groups had higher WTP-cure scores than those in the older age groups: 23.2 times the monthly post-tax income in the youngest age group of 10–13 years, vs. 1.7 times in the oldest group of ≥ 31 years. There was no correlation between WTP-cure and acne severity on the face or chest, but more severe acne on the back correlated with lower WTP-cure (P = 0.01). There was no significant difference in WTP between male and female patients [P(T ≤ t) two tail = 0.34]. There were significant differences in WTP-cure scores for acne across age groups, income groups and acne severities. There were no differences found for gender, or face or chest severity. It would be of benefit for further research studies to assess psychometric scores against WTP-cure.
SG02 First report of ABCA12 mutations causing isolated palmoplantar keratoderma and a review of mild phenotypes associated with ABCA12
Authors: Song Deyu , Wang Sheng 
Published: June 2024

Abstract
This report presents a case of isolated palmoplantar keratoderma (PPK) resulting from mutations in the C-terminus of ABCA12, and reviews the reported mild cases associated with ABCA12 mutations. A 31-year-old female patient presented with progressive thickening of the palms and soles since the age of 7 years, with no obvious conscious symptoms. No rashes of ichthyosis were noted on other areas of the body, and no abnormalities of the nails, hair and teeth were identified. Genetic analysis identified a novel compound heterozygous ABCA12 gene mutation in the patient. This included a mutation c.7659_7662dupGAGT (p.Q2555Efs*20) in exon 52 and c.7386G&gt;C (p.M2462I) in exon 50, inherited from her mother and father, respectively. The diagnosis of isolated PPK associated with ABCA12 variants was considered. Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses, encompassing conditions such as congenital ichthyosiform erythroderma (CIE; MIM #601277), harlequin ichthyosis (#242500) and lamellar ichthyosis, often accompanied by PPK. Occasionally, specific ABCA12 mutations have been linked to milder phenotypes, including erythrokeratodermia variabilis et progressiva (EKVP) and pityriasis rubra pilaris (PRP) (Table) (Sun Q, Burgren NM, Cheraghlou S et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol 2022; 158: 16–25; Takeichi T, Hamada T, Yamamoto M et al. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. J Dermatol 2024; 51: 101–5). In our study, PPK without lesions of generalized ichthyosis was noted. The identified causal mutations, located in exons 50 and 52, indicate a potential mild loss of protein function in the C-terminus of ABCA12, offering a plausible explanation for the observed mild phenotype. Our study expands the phenotypic spectrum associated with ABCA12 variants and underscores the genetic heterogeneity of isolated PPK.TableABCA12-associated mild keratinization disordersClinical phenotypeGenetic basisEKVPCompound heterozygous: p.N678Rfs*10; c.2866–8T&gt;ACompound heterozygous: p.D844G;p.P1938SCompound heterozygous: p.Y1929*; p.E2284DCompound heterozygous: H1471R; T1534PRPHomozygous: p.T1534MHomozygous: p.R2426WNaevoid form of CIERecessive mosaicism: p.l1257Nfs*4; p.E1227KMild CIE with periodic exacerbationCompound heterozygous: p.N2184I; p.I2307Rfs*14Isolated PPKCompound heterozygous: p.Q2555Efs*20; p.M2462I
SG12 ‘There’s something fishy going on’: a case of trimethylaminuria
Authors: Quigley Claire , Loftus Clodagh , Clowry Julianne , Irvine Alan D 
Published: June 2024

Abstract
Trimethylaminuria (TMAU) is a rare metabolic disorder resulting in the accumulation of trimethylamine (TMA), which is a foul-smelling metabolite that is excreted in bodily fluids and exudes a characteristic odour of rotting fish. Although the condition is not life-threatening, the psychological and social consequence can be devastating. Herein, we present the case of a 35-year-old woman with a diagnosis of TMAU. This case outlines the methods by which a diagnosis of TMAU can be made, while also magnifying the negative psychosocial impact of this rare diagnosis. It also reflects real-world experience with the currently available therapeutic options. TMA is produced in the gastrointestinal tract from dietary precursors such as choline (present in eggs, liver and poultry), trimethylamine N-oxide (TMAO; found in marine fish) and carnitine (found in meat). Primary trimethylaminuria is due to a mutation in the FMO3 gene, leading to the inability to oxidize this amine to the nonodorous metabolite (TMAO) (Antoñanzas J, Querol-Cisneros E, Alkorta-Aranburu G et al. Primary trimethylaminuria syndrome: more than an unpleasant odor. Int J Dermatol 2023; 62: e176–8). At present, over 40 variants in FMO3 associated with TMAU have been identified. Secondary or acquired TMAU is the result of a combination of factors including increased consumption of dietary precursors, gut dysbiosis, hepatic impairment and hormonal fluctuations resulting in an accumulation of TMA. Treatment regimens involve limiting precursors intake, using acidic soaps to reduce the volatility of excreted TMA, targeting gut microbiota, and the use of oral sequestering agents (Schmidt AC, Leroux JC. Treatments of trimethylaminuria: where we are and where we might be heading. Drug Discov Today 2020; 25: 1710–17). However, current treatment options have had limited therapeutic effect. Referral to metabolic specialists for correct nutritional support and referral to psychiatry is paramount for these patients. As evident from our patient’s viewpoint, this diagnosis can have a lifelong impact on social engagement and psychological health.
Teledermatology & Digital Dermatology SymposiumOral presentationsBT01 Developing a national artificial intelligence-assisted skin cancer pathway
Authors: Morton Colin , Chin Gillian X M , Carse Jacob , McKenna Stephen , Matin Rubeta , Fleming Colin 
Published: June 2024

Abstract
The AI Skin Cancer Consortium seeks to progress integration of artificial intelligence (AI) into the skin cancer referral pathway to promote rapid diagnosis of skin cancer and reassurance with benign lesions. In contrast to other fields of medicine, such as radiology, dermatology has lacked standardization in data acquisition, which is required for high-quality, reproducible and interoperable AI algorithm performance. Beginning in 2021, the consortium has made substantial progress towards defining a national pathway, technology architecture and data flows. We describe a standardized approach to acquisition of macroscopic and dermoscopic images, and technical and clinical metadata in a DICOM (Digital Imaging and Communications in Medicine) format, currently acquired in outpatient imaging centres and in general practice. In order to develop a transparent competitive environment for testing of this standardized National Health Service (NHS) pipeline, the consortium created a Small Business Research Initiative funded via a government agency. Three companies were awarded funding for this two-phase programme, from 15 applicants. These industry partners tested the pipeline within a trusted research environment (TRE), using real-world data. All industry partners were able to evaluate skin lesion images in combination with interoperable clinical metadata and run existing algorithms in the TRE. We report progress on this competition and also on the process of creating a national database, to permit competitive testing performance of different algorithms with specific clinical use cases. To assess the cost-effectiveness of introducing AI into the skin cancer pathway, we have also collaborated with the York Health Economics Consortium to produce a model to permit estimation of the impact of an AI triage tool to assist clinician triage. The recent vision statement from the British Association of Dermatologists encourages AI solutions intended to address a clinical unmet need and that integrates into patient pathways to enhance the service provided by healthcare professionals [https://www.bad.org.uk/clinical-services/artificial-intelligence/vision-statement-on-artificial-intelligence-ai-interventions/ (last accessed 19 March 2024)]. If the UK is to be at the forefront of skin AI, then it is imperative that the market is stimulated through use of meticulously standardized interoperable data standards with platforms that allow for transparent testing of multiple algorithms. We have successfully introduced a pipeline for safely generating standardized, high-quality images that are suitable for AI, identifying where we can achieve the greatest potential value for introducing AI into the NHS skin cancer referral pathway.
BT03 A picture paints a thousand words: simple solutions for optimizing the flow of urgent skin cancer referrals
Authors: Felton Jessie 
Published: June 2024

Abstract
In the face of increasing urgent skin cancer (USC) referrals from primary care, innovative solutions are needed. We present a low-cost, low-burden solution. Alternative pathways such as ‘rapid access lesion clinics’ build up waiting lists. In some areas photos are not assessed for 4 months (unpublished data) and the pathway is redundant. USC referrals are traditionally not triaged by a consultant, but non-USC referral are. We use consultant triage of some USC referrals, to support the USC teledermatology service. This ensures patients are appropriate, and correct numbers of patient are seen via teledermatology each week to avoid build-up of a waiting list. We present data from a 1-week snapshot survey of 66 USC referrals from primary care to a National Health Service hospital. We recorded the following: (i) whether a photo of any type accompanied the referral; (ii) whether the patient was suitable for teledermatology; this was established using criteria agreed by our local network with exclusions (e.g. immunosuppressed) and (iii) whether the consultant undertaking triage was confident to either downgrade off the USC pathway or discharge the patient based on the information provided in the USC referral. The results showed that 35 of 66 (53%) were suitable for teledermatology, and 31 of 66 (47%) were for face-to-face review. Ten of 66 referrals (15%) had a photograph but no dermoscopic images provided. Six of 66 (9%) were considered suitable for removal from the USC pathway or for discharge to the general practitioner (GP). Of these patients, five of six (83%) had a photograph attached to the referral. This indicates that use of USC consultant triage has the potential to reduce the number of patients entering the USC pathway. A macroscopic picture can be sufficient. This is a low-cost change that can be implemented quickly in most services. One clear referral pathway for the GP is used, USC referral, but patients are diverted at an early stage. USC triage also ensures that appropriate patients enter into the teledermatology pathway, avoiding duplication. The number of patients triaged to teledermatology matches the image-taking capacity, to eliminate waiting lists. USC triage allows for low-risk patients to be sent for artificial intelligence (AI) analysis, but can select out high-risk patients and unusual tumours. Many AI skin cancer services do not use metadata in their process and are not sufficiently trained on rare tumours. USC triage places additional burden on dermatology consultants but this is balanced against USC breaches and unrestricted numbers of patients entering the USC pathway.
BT05 Comparing the number-needed-to-biopsy ratio for melanoma diagnosis between teledermatology, an artificial intelligence device with teledermatology, and face-to-face models of care
Authors: Bali Radhika , Chung Jenny , Thomas Lucy , Hussain Khawar , Fearfield Louise 
Published: June 2024

Abstract
Traditional face-to-face (FTF) models of care are shifting towards use of hybrid FTF–teledermatology (TD) models, with certain UK centres adopting the additional use of artificial intelligence (AI) medical devices in suspected 2-week-wait (2WW) skin cancer referrals. The number-needed-to-biopsy (NNB) ratio is calculated by dividing the total number of biopsies by the number of biopsied (excised) skin cancers. NNB is increasingly used as a metric for diagnostic accuracy of malignant melanoma (MM) detection, with low ratios suggesting high specificity and vice versa. Our TD service has incorporated AI technology (DERM) using a marked class IIA medical device from April 2022. We therefore aimed to compare the NNB ratio for MM detection assessed via TD before and after introduction of the AI tool with FTF models of care. Retrospective analysis was performed on 50 consecutive patients in each group with suspected MM, assessed by consultant dermatologists. In the pre-AI group (31 female, 19 male; median age 51 years, range 23–94), six patients had confirmed MM (NNB 8.3). Subtypes included 4 of 6 superficial spreading melanoma (SSM), 1 of 6 nodular, and 1 of 6 in situ melanoma. The median Breslow thickness (BT) was 0.6 mm (range 0.6–7.5). Comparatively, in the post-AI cohort (36 female, 14 male; median age 53.5 years, range 22–97), seven lesions were confirmed as MM (NNB 7.1). Four of 7 were SSM, 1 of 7 lentiginous, 1 of 7 regressed and 1 of 7 in situ melanoma, with median BT 0.7 mm (range 0.4–17.1). Concordance between AI and reviewer diagnosis was 70% (35 of 50) in total and 86% (6 of 7) for confirmed MM. The accuracy of the AI compared with the histological diagnosis was 28% (14 of 50) overall, with a tendency to overdiagnose benign lesions as malignant, and 86% (6 of 7) for the MM cohort. FTF analysis (25 female, 25 male; median age 50.5 years, range 21–87) revealed six confirmed MM (NNB 8.3). Two of 6 were SSM, 2 of 6 nodular and 2 of 6 in situ melanoma, with median BT 2.8 mm (range 1–15). Our results show similar NNB ratios in both the pre-AI (8.3) and post-AI (7.1) TD cohorts, and the FTF group (8.3), which is reassuring and comparable with an NNB of 9.6, reported from a meta-analysis of 26 studies worldwide (Petty AJ, Ackerson B, Garza R et al. Meta-analysis of number needed to treat for diagnosis of melanoma by clinical setting. J Am Acad Dermatol 2020; 82: 1158–65). Decreased median BT was observed in the TD cohorts compared with FTF analysis, signalling possible earlier detection of MM. While TD, in conjunction with AI tools, may offer innovative and practical approaches to manage high volumes of 2WW referrals through extraction of benign lesions, specificity may initially be compromised. Ultimately, larger real-world datasets are required to further validate the performance of AI to assess superiority in diagnostic accuracy.