bluuebunny/crossref_metadata_2025_split huggingface dataset:
H02 Superficial X-rays and grenz rays for benign dermatoses: from saviour to pariah over the course of the 20th century – the story of the remarkable rise and slow decline of an entire therapeutic modality and its potential for revival
Authors: Sharara Zinah , Gawkrodger David J 
Published: June 2024

Abstract
Dermatologists in the decade spanning the turn of the 19th century thought they were on to something with the discovery of X-rays by Wilhelm Röntgen at Würzburg in 1895. Effects on the skin were soon apparent from the earliest experiments, and dermatologists, keenly aware of Niels Finsen’s success using ultraviolet radiation for lupus vulgaris, quickly transmuted their interest to the new type of radiation. They were impressed with its benefits not only in lupus vulgaris but also in a wide range of disorders including important conditions such as acne, eczema, psoriasis, fungal infections and skin cancers. Major hospitals set up ‘electrical’ departments – the Middlesex Hospital had one from 1896 – and textbooks heavily featured the new modality. Malcolm Morris’s 1911 Diseases of the Skin lists X-ray treatment for no fewer than 38 conditions. Grenz rays, with wavelengths nearer the ultraviolet and not so penetrative as X-rays, found similar applications. In the absence of an overabundance of effective topical therapies, and despite the growing realization that overdosage was a potential hazard, superficial X-rays represented a major limb of the dermatologist’s armamentarium through the interwar years and beyond. Fifty-five per cent of office dermatologists in the USA of 1975 had their own X-ray machine. Most British skin clinics had machines and dedicated radiographers to boot. The decline started with the topical corticosteroid revolution of the 1960s and accelerated after that, such that by the 1980s, with the removal of X-ray machines from dermatology departments, radiologists were disinclined to permit the use of superficial X-rays for benign dermatoses. Some centres pressed on with their use for a while in hard-to-treat eczema or psoriasis of the hands or feet, but the current guidelines no longer support this, describing the treatment as ‘obsolete’. The use of more penetrating radiation has been maintained for certain skin cancer indications. Considering that many biologics with serious and not uncommon side-effects are now prescribed at quite a low severity bar, it is tempting to think that the toxicity of judiciously applied superficial X-rays might be of a similar or even lesser order. Perhaps this previously indispensable modality is due a revival?
Poster presentationsH05 Tutankhamun’s patchouli slumber: are we sleeping on it in dermatology?
Authors: Malik Nabiah , Nikookam Yasmin , Hirniak Johnathan , Sayedyusef Ahmad 
Published: June 2024

Abstract
Patchouli oil is derived from the patchouli plant, a member of the family Lamiaceae. Similar plants from this family include mint, sage and lavender. The Pogostemon cablin species of the plant is the most popular for cultivating essential oil due to the species’ outstanding therapeutic properties. The oil is obtained through an intricate steam distillation process. Initially used in South East Asia to mask the smell of body decomposition during funerals in the 17th century, and later as an insect repellent in the 1800s, patchouli leaves entered the European market in the 19th century. Nowadays, it is used across perfumery, aromatherapy, skincare and spiritual practices. Once a symbol of wealth, patchouli was so beloved by Tutankhamun that he was buried with 10 gallons of the oil in his tomb in ancient Egypt. Concerning dermatological conditions, patchouli was an early treatment for acne due to its anti-inflammatory and antibacterial properties. It has also shown benefits for dermatitis, eczema, dandruff and oily scalp conditions. As a cell rejuvenator, it can help reduce scar appearance and aid in wound healing. These effects are attributed to the flavonoids, mono- and sesquiterpenoids present in patchouli. In 2013, Yang et al. used molecular docking technology to investigate the antibacterial activity of patchouli oil in vitro (Yang X, Zhang X, Yang SP, Liu WQ. Evaluation of the antibacterial activity of patchouli oil. Iran J Pharm Res 2013; 12: 307–16). Twenty-six compounds in the oil displayed antibacterial activity. In further studies, molecular docking tools and viewer software were used for virtual screening of these compounds. The most significant finding was alpha-patchouli alcohol being a potential inhibitor of the cyclo-oxygenase 1 enzyme. Inhibiting this enzyme would reduce the prostaglandin production involved in the inflammatory process. Different studies have also shown a correlation with patchouli oil and the downregulation of matrix metalloproteinases (MMP-1 and MMP-3) involved in collagen degradation. Further experimental evidence has demonstrated positive results for ultraviolet-induced skin photoageing and the protective effects of P. cablin in mice. Researchers applied patchouli oil for 2 h before ultraviolet exposure to the dorsal skin of mice. Patchouli oil doses of 6 mg per mouse and 9 mg per mouse significantly suppressed skin wrinkle formation, improved skin elasticity, and increased collagen content by 21.9% and 26.3%, respectively. Patchouli oil maintains a prominent role in traditional Asian medicine, while in the West, there is minimal literature, indicating substantial potential for patchouli in dermatological practice. The promising evidence for photoageing necessitates continued investigation. In the cosmetic industry, patchouli remains a popular ingredient in beard oils and more, appreciated by many.
PS06 Mindfulness-based stress reduction alleviates flushing and negative emotions in rosacea: an exploratory study
Authors: Song Deyu , Jiang Xian 
Published: June 2024

Abstract
Rosacea is commonly associated with a significant psychosocial burden. Mindfulness-based stress reduction (MBSR) has shown promising prospects in inflammatory skin diseases, including psoriasis and atopic dermatitis (Kishimoto S, Watanabe N, Yamamoto Y et al. Efficacy of integrated online mindfulness and self-compassion training for adults with atopic dermatitis: a randomized clinical trial. JAMA Dermatol 2023; 159: 628; Muftin Z, Gilbert P, Thompson AR. A randomized controlled feasibility trial of online compassion-focused self-help for psoriasis. Br J Dermatol 2022; 186: 955–62). To evaluate the efficacy of MBSR on clinical symptoms and negative emotions in rosacea, we conducted an exploratory, open-label trial and qualitative research. In this study, 14 patients with rosacea participated in an 8-week online MBSR programme in small groups. The Global Flushing Severity Score (GFSS), erythema visual analogue scale, Dermatology Life Quality Index, Self-Rating Depression Scale (SDS), Self-Rating Anxiety Scale (SAS) and Stigma Scale were applied to evaluate the clinical symptoms and emotional wellbeing. Statistical analysis was performed with the t-test and Wilcoxon signed-rank test. At week 9, in-depth semistructured interviews were conducted with eight enrolled patients to gain insight into their subjective experiences and perceptions. Thematic analysis was applied to analyse the interview data. Statistically significant reduction in the score of GFSS was observed after 8 weeks of mindfulness training, with a median decrease of −2.0 points (interquartile range −2.0 to 0.0; P = 0.02). Additionally, there were also significant reductions in the SDS, SAS and Stigma Scale scores. Qualitative analysis showed that patients were more likely to develop positive emotions, and recognized that avoiding confrontation with the disease can alleviate negative emotions (Table). Our study is the first to evaluate the efficacy of MBSR on rosacea and to delve into the subjective experiences of patients regarding MBSR. This suggests significant therapeutic potential. Larger randomized controlled studies are needed to clarify the efficacy of MBSR in rosacea.ThemesVerbatim transcript extractsBetter emotional regulation‘I feel extremely anxious when flushing comes; mindfulness helps me calm down and alleviate the anxiety’ (MG02)Self-acceptance‘I feel much more relaxed now. I no longer focus on my facial redness or worry about how others perceive me’ (MG11)‘I used to think that having rosacea made me a loser in life. I thought everyone else was beautiful except for me’ (MG12)More exercise is needed‘This process is like stepping into a mental fitness studio, where each practice session helps me observe my inner self’ (MG05)
Skin GeneticsOral presentationsSG01 WNT10A-related ectodermal dysplasia: five cases demonstrating the phenotypic spectrum
Authors: Vaughan Emily , Ravenscroft Jane , Suri Mohnish 
Published: June 2024

Abstract
Ectodermal dysplasia is the term used to describe a group of genetic conditions that lead to developmental abnormalities of two or more of the following: teeth, hair, nails, sweat glands, and other ectodermal structures. Mutations in EDA, EDAR, and EDARADD account for over one-half of all cases, but several other genes have also been implicated. The first report of an ectodermal dysplasia caused by an altered WNT signalling pathway was reported in 2007. It is now recognized that WNT10A variants cause a spectrum of autosomal recessive ectodermal dysplasia syndromes, from isolated hypodontia, to odonto-onycho-dermal dysplasia (OODD), to Schopf–Schulz–Passarge syndrome (SSPS). Interestingly, heterozygous carriers can have more subtle dental, nail or hair abnormalities. We report five cases with biallelic WNT10A variants to demonstrate their key clinical findings. The patients ranged in age from 3 to 43 years. All five cases had a hair–tooth–nail-type ectodermal dysplasia with hypodontia, abnormally shaped teeth, fine or sparse scalp hair and eyebrows, and dystrophic nail changes. Three cases reported hyperhidrosis, whereas two patients reported hypohidrosis and temperature regulation difficulties. Eczema of varying severity was reported in all cases, with palmar hyperkeratosis in three. Two adult patients had developed apocrine hidrocytomas along the eyelids, which would suggest a diagnosis of SSPS. The other three were diagnosed with OODD. SSPS can be associated with an increased risk of benign adnexal tumours, squamous cell carcinomas and basal cell carcinomas. There is no history of benign or malignant skin tumours among our patients to date. Biallelic WNT10A variants were identified in all five cases by testing for variants in the 37-gene ectodermal dysplasia panel (R163; version 3.0). Three cases were homozygous for the pathogenic c.321C&gt;A (p.Cys107Ter) variant. One case was compound heterozygous for the c.321C&gt;A and likely pathogenic c.283G&gt;A (p.Glu95Lys) variants. The fifth case was found to be compound heterozygous for the c.321C&gt;A and pathogenic c382C&gt;T (p.Arg128Ter) variants. This case series shows that biallelic WNT10A variants result in a hair–tooth–nail-type ectodermal dysplasia with either hyperhidrosis or hypohidrosis. It is difficult to differentiate between OODD and SSPS in younger cases as the characteristic eyelid cysts of the latter only develop in adult life.
SG06 (P013) Eruptive seborrhoeic keratoses in late-onset constitutional mismatch repair deficiency
Authors: Fostier William , Holt Georgie , Husain Akhtar , Tellez James , Wimmer Katharina , Martin Richard , Burn John , Gallon Richard , Rajan Neil 
Published: June 2024

Abstract
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition typically diagnosed in childhood. It is caused by biallelic inheritance of pathogenic variants within the MLH1, MSH2, MSH6 and PMS2 genes (DNA mismatch repair pathway). It confers a high risk of cancer, with many patients developing brain, gastrointestinal or haematological malignancy in the first two decades of life. The cutaneous features of CMMRD share similarities with neurofibromatosis, with café au lait macules, Lisch nodules, neurofibromas and axillary/inguinal freckling reported. Herein, we report a case of a 31-year-old woman with colorectal polyposis and multiple primary cancers presenting with an eruption of seborrhoeic keratoses (SKs), consistent with the paraneoplastic sign of Leser–Trélat sign (LTS). Aged 23 years, the proband underwent a prophylactic subtotal colectomy for multiple adenomatous large-bowel polyps. During colectomy, analysis of an enlarged mesenteric lymph node revealed a synchronous diffuse large B-cell lymphoma. This was treated with excision and chemotherapy. When she was aged 24 years, an ampulla of Vater adenoma was excised. Aged 29 years, she developed triple-negative invasive ductal carcinoma of the breast, treated with surgery and chemotherapy. The proband also developed basal cell carcinoma on her forehead and the tarsal edge of her right eye at ages 28 and 31 years, respectively. Her family history revealed that her father died at age 33 years of colorectal cancer, while her mother died at age 60 years due to cerebral haemorrhage. Concurrently to the proband’s breast cancer diagnosis, cutaneous examination revealed widespread small skin-coloured and brown plaques, which were confirmed on biopsy to be SKs in a predominantly acral distribution, with sparing of the trunk. Immunohistochemical assessment of the SKs demonstrated loss of expression of PMS2, with loss of expression also seen in normal perilesional skin. Microsatellite instability (MSI) analysis of peripheral leucocyte DNA revealed high levels of constitutional MSI, indicative of CMMRD. Germline genetic testing revealed compound heterozygous pathogenic variants in PMS2, confirming the diagnosis. LTS is characterized by an eruption of SKs in association with concurrent development of cancers arising from the breast, lung and gastrointestinal tract. A putative mechanism is that tumour-secreted factors, such as epidermal growth factor, drive SK growth. The responsible tumour may be difficult to determine in patients with multiple primary cancers; however, temporally, the breast cancer in our patient was most closely linked to her presentation of LTS. This case emphasizes the importance of recognizing the sign of LTS, a novel feature in the context of CMMRD.
SG09 Ichthyosis prematurity syndrome: from birth to adulthood
Authors: Darwish Iman , O’Toole Edel , Batta Kapila 
Published: June 2024

Abstract
Ichthyosis prematurity syndrome (IPS) is a rare congenital syndrome presenting with the clinical triad of premature birth, thick vernix-like scale and respiratory difficulties. It is an autosomal recessive genodermatosis with mutations in the SLC27A4 gene encoding fatty acid transport protein 4, which regulates fatty acids critical for cornified envelope formation in utero. This mutation causes abnormal desquamation of keratinocytes into the amniotic fluid, resulting in polyhydramnios and respiratory failure due to aspiration of excessive keratinocyte debris (Khnykin D, Rønnevig J, Johnsson M et al. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol 2011; 66: 606–16). Despite its well-described clinical features and major perinatal morbidity, IPS is still rarely recognized, with only a few cases having been reported in the literature. Here we describe the clinical features from birth to adulthood in a patient first diagnosed in her twenties. A 25-year-old woman was referred to our dermatology service with dry skin since birth and scalp hair loss for 2 years. The patient was born at 33 weeks’ gestation to unrelated parents. A fetal ultrasound at 33 weeks’ gestation demonstrated polyhydramnios with increased echogenicity of the amniotic fluid. At birth, she required endotracheal intubation for respiratory distress. She was noted to have thickened vernix-like scaling across the entire body, which gradually shed over 6 weeks to leave generalized dry skin, which has persisted. In adulthood, she reported very few hairs on her body and a 2-year history of frontal-scalp hair loss. She also reported reduced sweating and overheating in the summer months. On examination, she had extensive follicular hyperkeratosis and hypotrichosis. There was also an extensive area of follicular hyperkeratosis and alopecia in the frontal scalp. Her teeth and nails were normal. Next-generation sequencing showed she was compound heterozygous for the SLC27A4 c.556+2T&gt;G pathogenic variant and the c.899A&gt;G, p.Gln300Arg likely pathogenic variant, confirming the diagnosis of IPS. Both variants have previously been described in families with IPS. Her family have been referred for genetic counselling. IPS is an important diagnosis to consider in a neonate presenting with extensive hyperkeratotic skin changes, prematurity and respiratory failure. In our case, the diagnosis was established after 25 years and demonstrates the adult features, which have not previously been well described in the literature, including extensive follicular hyperkeratosis, alopecia and hypohidrosis.
BT08 Outcomes of urgent suspected cancer, urgent and routine skin lesion referrals assessed via teledermoscopy service
Authors: Elaribi Sirag , Atwan Ausama 
Published: June 2024

Abstract
This retrospective study examines the outcomes of referrals from primary care to our skin lesion service following the assessment of high-resolution clinical and dermoscopic images taken by medical photographers. The study investigates the prevalent diagnoses and outcomes of referrals in relation to the referral pathways, namely urgent suspected cancer (USC) vs. urgent vs. routine referrals. Referral letters along with clinical and dermoscopic images of 1203 patients referred between September 2022 and December 2023 were reviewed by a consultant dermatologist with an interest in dermoscopy and skin cancers. The urgency of referrals, clinical diagnoses and management plans were recorded in a spreadsheet for data collection. Most of the referrals (44.9%) were sent as USC. The others were referred as urgent (23.1%) and routine (32%). The most common diagnosis in all the groups was seborrhoeic keratosis, followed by basal cell carcinoma (Table). Surprisingly, there was no significant difference in the occurrences of these conditions between the three groups. Of all the USC referrals, 41.8% were discharged, 23% were directly booked for minor operative procedures (MOPs) and 24.4% required face-to-face (FTF) assessment for review or diagnostic biopsies. In the urgent group, 46.2% were discharged, 21.9% were booked for MOP, and 23.7% were invited for FTF assessment. Among the routine referrals, 59.1% were discharged, 19.3% were booked for MOP, and 17% were advised FTF assessment. In all the groups, 2–3% of the referrals were directly forwarded to other specialties (plastic, maxillofacial or oculoplastic surgery). Digital monitoring (by arranging for repeated photographs 3 months later for comparison) was requested for 8% of USC, 5.7% of urgent, and 1.8% of routine cases. Most of the digital monitoring cases (35.7%) were for melanocytic lesions, whereas the others were for suspected lichenoid keratoses and irritated seborrhoeic keratoses. Seborrhoeic keratosis was diagnosed in over one-quarter of all pathways of skin lesion referrals. In total, 84% of cases referred as USC were either benign or nonurgent, whereas 5% of routine referrals were suspected to be melanomas or squamous cell carcinomas (SCCs). This highlights the urgent need for improved diagnostic skills when recognizing common skin lesions in primary care. High-resolution clinical and dermoscopic images in a teledermoscopy service provide a helpful tool to prioritize patients effectively and facilitate standardized digital monitoring in selected cases.DiagnosesUSC (n = 540, 44.9%)Urgent (n = 279, 23.1%)Routine (n = 384, 32%)Seborrhoeic keratosis25.9%27.6%25.8%Basal cell carcinoma15%18.6%19%Benign naevi14.4%9.3%8.8%Actinic keratosis5.4%7.2%9%Melanoma/SCC15.9%8.2%5%
BT10 (P025) Community lesion imaging clinics for tele-triage of suspected skin cancer: implementation of a low-cost model in an NHS trust
Authors: Morgan Hannah , Greenish Huw , Shirwac Hafsa Faarax , Fleming Colin , Anderson Alexander D G 
Published: June 2024

Abstract
Across the NHS there has been a significant and sustained rise in referrals for suspected skin cancer, resulting in a capacity crisis in many NHS trusts. Teledermatology has been successfully used to triage suspected skin cancer referrals nationally, but often involves dedicated medical photographers and expensive equipment. The aim of this study was to report the initial results of tele-triage based on a low-cost community imaging lesion clinic (CLIC) service using dermatology staff and readily available equipment. CLICs were provided in a community hospital setting and staffed by band 3 healthcare assistants. A structured questionnaire was completed and data entered directly into a cloud-based software platform (Islacare, London, UK) using an iPad. The same iPad was used to capture a localizing shot, a close-up macro shot using a readily available clip-on macro lens and a dermoscopic image using a Dermlite DL4. Patients under 18 years of age, those referred with more than three lesions, and patients with genital lesions were excluded. Referral letters, questionnaire data and images were reviewed by a senior dermatologist within 48 h on the Isla platform. In total, 438 patients were reviewed (489 lesions) between August and November 2023. The male-to-female ratio was 1.08, with a median age of 72 years (interquartile range 62–80). Overall, 122 of 438 patients (27.9%) were discharged directly from triage, with advice returned to the referrer. An additional 91 of 438 (20.8%) were identified as suitable for direct listing for biopsy or simple excision. Four of 438 (0.9%) were referred to another specialty following triage, one of 438 (0.2%) had a delayed face-to-face assessment organized, one of 438 (0.2%) declined to participate in tele-triage and requested a face-to-face appointment, one of 438 (0.2%) experienced technical problems, and in one of 438 (0.2%) the site for review was not clear. A potential total of 218 of 438 (49.8%) face-to-face assessments were avoided. The average time for clinician review was 2 min 55 s per patient. Tele-triage using a low-cost CLIC was well tolerated, feasible and effective and resulted in a capacity increase of almost 50%. A significant proportion of patients were managed in a community setting without the need for travel to hospital. One further advantage was the creation of a consecutive series of images and metadata suitable for future study of diagnostic artificial intelligence algorithms or submission to a national dataset.