tbuckley/cabot-search huggingface dataset:
P054 National incidence and survival of extramammary Paget disease 2013–2020 in England: reporting a total of 740 cases
Authors: Shweta Karkara, Farishta Khan, Birgitta Van Bodegraven, Zoe C Venables
Journal: British Journal of Dermatology (2024)

Abstract Extramammary Paget disease (EMPD) is a rare disease affecting the rich apocrine gland-bearing areas commonly involving the genital and perianal skin. It was first described in 1889 by Radcliffe Crocker. Clinical features of EMPD are insidious and nonspecific, frequently resulting in delayed diagnosis. Diagnosis of EMPD is important due to its association with an underlying malignancy, most commonly urothelial or anorectal, but it may also be cervical, prostatic, ovarian or endometrial in 10–30% cases. Until recently, there were limited national epidemiological data on incidence and survival. National data on EMPD incidence and 5-year survival in England from 2013 to 2020 were extracted from report-level data published openly by the ‘Get Data Out’ National Disease Registration Service programme. Crude incidence rates are reported per 100 000 person-years (PY). Survival is reported as overall Kaplan–Meier survival and net survival with associated 95% confidence intervals (CIs). Data for 2020 vs. 2019 incidence rate ratios with 95% CIs were calculated using the exact Poisson method. In total, 740 new cases of EMPD were diagnosed between 2013 and 2020, with a mean of 93 cases per year. The average crude incidence rate of EMPD per year was 0.17 per 100 000 PY (95% CI 0.14–0.21). The crude incidence rate in 2013 was 0.16 per 100 000 PY (95% CI 0.13–0.20), which increased nonsignificantly in 2019 to 0.20 per 100 000 (95% CI 0.16–0.24). During 2020, the first year of the COVID-19 pandemic, incidence decreased to 0.14 per 100 000 (95% CI 0.11–0.18). The incidence rate ratio between 2020 and 2019 was 0.73 (95% CI 0.54–0.98), with a P-value of 0.03. The 5-year overall Kaplan–Meier survival was 74.1% (95% CI 63.4–82.1) for EMPD diagnosed in 2013. Important limitations include lack of published data on site, age group, depth of invasion and associated comorbidities including malignancies due to small numbers. The reported net survival for EMPD is comparable with that for melanoma and prostate and breast cancer, presumably a result of its association with other underlying malignancies. The increase in crude incidence rates likely represents the ageing population, and one might expect age-standardized rates to be relatively static. The apparent decrease in the crude incidence rate of EMPD during 2020 demonstrates the impact of the pandemic on skin cancer services, as also shown for melanoma and other cancers. A study in the Netherlands assessed 178 cases of invasive and 48 cases of in situ EMPD and found an overall relative 5-year survival of 72% for invasive tumours and an incidence rate of 0.11 per 100 000 PY for EMPD. These data are important in better understanding the trends and outcomes of this rare and poorly understood tumour.
PD06 (P035) Quantifying the mutation burden of a therapeutic course of narrowband ultraviolet B (UVB) to help inform on the carcinogenicity of narrowband UVB
Authors: George Coltart, Joanna Fowler, Roshan Sood, Chester Lai, Noeline Nadarajah, Philip Jones, Eugene Healy
Journal: British Journal of Dermatology (2024)

Abstract Narrowband ultraviolet B (NB-UVB) is recommended by NICE as a treatment for chronic plaque and guttate psoriasis that cannot be controlled with topical therapies. However, ultraviolet radiation is a carcinogen that causes DNA mutations in the skin, and in some cases results in skin cancer development. To date, there have been no studies determining how many mutations develop in human skin as a result of a therapeutic course of NB-UVB, and therefore we investigated the mutation burden of NB-UVB in the current study. Although whole-exome or whole-genome sequencing and target-enriched sequencing can detect mutations in large clones of mutated skin cells, these approaches do not detect mutations occurring only in single skin cells, hence we used a novel type of sequencing called Nanorate sequencing (which can identify mutations occurring in just a single molecule of DNA) in this study. We obtained 6-mm punch biopsies of normal skin (buttock and/or forearm) before and after a course of UV from patients (n = 16) undergoing NB-UVB treatment for psoriasis. Epidermis was microdissected from the dermis and the epidermal DNA was sequenced using Nanorate sequencing. DNA from venous blood underwent whole-genome sequencing as germline control for accurate identification of mutations in the epidermal samples. The numbers of DNA mutations were compared between the skin samples taken before and after NB-UVB in order to quantify the mutation burden attributable to the course of NB-UVB. Minimal erythema doses ranged from 0.3 to 0.9 J cm−2 and the total dose received during the course of NB-UVB ranged from 14.8 to 133 J cm−2. There was a significant rise in the number of mutations in buttock and forearm skin due to the NB-UVB treatment, with median increases in single-base substitutions per megabase of 1.09 SBS/Mb (P = 0.001) and 3.77 SBS/Mb (P = 0.0098) in buttock and forearm epidermis, respectively. The change in number of mutations secondary to NB-UVB treatment was predominately due to UV signatures SBS7a and SBS7b, with the DBS1 (CC&amp;gt;TT mutations) double-base substitution signature also identified in buttock and forearm skin samples. Comparison of the increase in mutation burden from NB-UVB with the mutation burden in keratinocyte cancers indicated that, for more susceptible patients, a course of NB-UVB therapy contributed as much as one-sixteenth of the total mutational burden of a cutaneous squamous cell cancer.
P103 Clinical clues for frontal fibrosing alopecia: a case series describing prominent, depressed forehead veins
Authors: Laksha Bala, Christie Tsang, Vani Agarwal, Noha Elshimy
Journal: British Journal of Dermatology (2024)

Abstract Frontal fibrosing alopecia (FFA) is a lymphocytic, scarring alopecia characterized by progressive frontotemporal hairline recession, most frequently in postmenopausal women. It is considered a subtype of lichen planopilaris, given the shared histopathological findings of perifollicular lymphocytic infiltration and fibrosis. FFA is a recently reported entity and one of the most common causes of cicatricial alopecia worldwide. Its pathogenesis is not well understood, with immune dysregulation, and hormonal, genetic and environmental factors all postulated to play a role. Clinical features include the characteristic bandlike frontotemporal scarring hair loss, perifollicular hyperkeratosis and erythema (active inflammation), the ‘lonely hair’ sign (terminal hairs within a band of alopecia), loss of eyelashes and eyebrows, and facial lesions (most commonly papules). Visible vascular abnormalities with prominent and/or depressed forehead veins are a much less recognized entity, with only three publications to date reporting this finding (Heymann WR. Vascular abnormalities in FFA, artificial intelligence and Winston Churchill. Dermatol World Insights Inquiries 2023; 5: Aug 23). We present a case series of 15 patients with FFA presenting to our tertiary centre hair clinic, who displayed prominent and/or depressed forehead veins. To the unsuspecting clinician, visibility of frontal veins may mistakenly be attributed to steroid atrophy (in patients receiving corticosteroid treatment). Instead, it has been hypothesized that FFA itself may be responsible. The pathogenesis of FFA involves concentric perifollicular fibrosis, thought to culminate in fibrous tract formation and progressive vertical contraction with dermal constriction. This may be more marked around vasculature, resulting in the characteristic appearance of frontal veins in FFA. Steroids may exacerbate this process, but are not thought to be pathogenic (Vañó-Galván S, Rodrigues-Barata AR, Urech M, Jiménez-Gómez N et al. Depression of the frontal veins: a new clinical sign of frontal fibrosing alopecia. J Am Acad Dermatol 2015; 72: 1087–8). Therapeutic approaches for FFA largely focus on suppression of inflammation driving perifollicular fibrosis. Common therapies include topical corticosteroids or calcineurin inhibitors, corticosteroid injections, and systemic therapies such as oral tetracyclines or hydroxychloroquine. Prominent vasculature in FFA can be challenging to treat, with one study supporting the use of Nd:YAG laser as a potentially safe and effective treatment. The reason for the presence of prominent, depressed forehead veins in FFA and, indeed, the preferential targeting of follicles along the frontal hairline in this disease remains unknown and merits further research. Nevertheless, this clinical sign may serve as a helpful diagnostic tool for the perceptive dermatologist.
BH06 (P110) Comparative efficacy of low-dose oral minoxidil, topical minoxidil, and platelet-rich plasma with topical minoxidil in androgenetic alopecia: a randomized controlled trial
Authors: P Janaani, Sendhil Kumaran, K Vinay, Hitaishi Mehta, Vinod Kumar Sharma
Journal: British Journal of Dermatology (2024)

Abstract Androgenetic alopecia (AGA) is conventionally managed with topical minoxidil, while platelet-rich plasma (PRP) and oral minoxidil present alternative options. Head-to-head trials are scarce, necessitating a comparative study. This randomized controlled trial aimed to compare the efficacy of low-dose oral minoxidil (2.5 mg once daily), topical minoxidil (5% twice daily), and PRP (four sessions, conducted every 4 weeks) combined with topical minoxidil 5% twice daily in individuals with AGA. Natural regulatory T cells (Tregs; CD4+ CD25high FOXP3+) reside within hair follicles, fostering the proliferation of hair follicular stem cells (HFSCs) through the NOTCH signalling pathway by elevating Jagged1 ligand expression. Additionally, the study explored the impact of these treatments on Treg cell populations – inducible Treg cells (CD4+ CD25low FOXP3+) and natural Treg cells (CD4+ CD25high FOXP3+) – and signalling molecules including cytotoxic T-lymphocyte-associated protein (CTLA)4, NOTCH and Jagged1. In total 66 male participants were randomly assigned to three groups of 22 patients each: oral minoxidil (Group 1), topical minoxidil (Group 2) and PRP with topical minoxidil (Group 3). Clinical and videodermoscopic assessments were conducted every 8 weeks, over 32 weeks. Treg cell populations and signalling molecules were analysed in skin biopsies (n = 5 from each group) obtained at baseline and 32 weeks. At 32 weeks, six (27%) patients each in Group 1 and Group 3, and three (14%) patients in Group 2 showed improvement in the grade of AGA. At 32 weeks, Group 3 significantly surpassed Groups 1 and 2 in increasing terminal hair density (P = 0.03 and P = 0.02, respectively). Group 1 had notably decreased vellus hairs compared with Group 3 (P = 0.02), and no significant difference was seen between Groups 2 and 3 (P = 0.2). Reduction in hair diameter diversity was observed with all three modalities, with earlier responses in Groups 1 and 3 (P &amp;lt; 0.01). A proportionate significant increase in natural Treg cells and a decrease in inducible Treg cells was observed at week 32 compared with baseline, without significant modality-specific differences: Group 1, mean 36.2 (SD 15); Group 2, mean 22 (SD 3.4); Group 3, mean 33.7 (SD 10); P = 0.31. A mean decrease in CTLA4 level and an increase in NOTCH and Jagged1 levels with a weakly negative nonsignificant correlation was observed in all three groups at week 32, with no modality-specific differences. Combining PRP with topical minoxidil achieved superior terminal hair density, while oral minoxidil exhibited an advantage in reducing vellus hair density. The study endorses low-dose oral minoxidil as an alternative to topical use and indicates the benefits of combining oral or topical minoxidil with PRP.
CD11 Techniques for patch testing interpretation in patients with skin of colour: a systematic review of the literature and textbooks
Authors: Subothini Sara Selvendran, Portia Goldsmith
Journal: British Journal of Dermatology (2024)

Abstract By 2031, approximately 15% of the UK population will comprise individuals with skin of colour. Allergic contact dermatitis can result in significant morbidity, and patch testing is the gold standard to detect triggers. Under-representation of those with skin of colour in educational materials may contribute to false negative patch testing and underdiagnosis of contact dermatitis in this population. Our aim was to investigate the extent to which images of positive patch tests in individuals with skin of colour are represented in the literature. A systematic search of the PubMed database and the Royal Society of Medicine (RSM) electronic library from conception to date was conducted. This revealed 903 articles and 2034 resources, respectively. Screening titles and abstracts revealed that six articles on PubMed and one paragraph in an electronic book on the RSM database commented on patch testing in those with skin of colour. Of these, only one article on PubMed included images of positive patch test results in individuals with skin of colour. In our department, 60% of patients have skin of colour. We describe our techniques for patch test readings and present an example of how positive reactions can be missed. We recommend using a tangential light at a 45° to 90° angle to reveal any areas of skin that are papular. The skin under all the areas where patches have been applied should be gently palpated by running an index finger over the skin to assess whether they are raised or infiltrated. A 61-year-old Afro-Caribbean woman underwent patch testing. Positive patch test reactions to fragrance mix I, fragrance mix II, geraniol, citral, limonene and thiuram were observed. These were demonstrated through a cluster of vesicles and papules that were skin coloured rather than erythematous. The use of tangential lighting enabled visualization of the results and mitigated glare. In summary, our literature review has shown that there is an omission in textbooks and papers on the challenges of how to read patch tests in patients with skin of colour. There is a need to increase the awareness of the pitfalls of looking for skin erythema and how to use simple techniques such as tangential lighting and palpation to help detect positive patch test reactions. This information coupled with images should be in educational materials to prevent underdiagnosing contact dermatitis and healthcare inequalities for people with skin of colour.
DS09 Nasalis myocutaneous island pedicle flap for nasal defects after Mohs surgery: a case series and video demonstration
Authors: Arif Aslam
Journal: British Journal of Dermatology (2024)

Abstract The technically difficult superiorly based nasalis myocutaneous island pedicle flap has been described as a useful repair option for distal nose defects after Mohs surgery. Both the bipedicle and single pedicle modification have been described. With the use of a video demonstration the author demonstrates the method of preparing, raising and executing the single pedicle nasalis sling flap, with pre- and postoperative results of representative cases. The author also describes his 6-year experience with this flap with pearls on how to execute it for the best results.
PD08 Normal phototests in five patients with Bloom syndrome
Authors: Farrah Bakr, Mhairi Duncan, Harsha Naik, Robert Sarkany, Alan Lehmann, Shehla Mohammed, Hiva Fassihi
Journal: British Journal of Dermatology (2024)

Abstract Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by abnormal growth, skin changes, immunodeficiency, insulin resistance and diabetes, impaired fertility, and a significantly increased risk of cancer from an early age, commonly leukaemia. It is caused by variants in the BLM gene, encoding the DNA repair enzyme RecQL3 helicase, resulting in chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges (SCE), pathognomonic of the syndrome. In the literature, patients with BS are frequently reported to be photosensitive. Although the skin is typically normal at birth, there are reports of marked and recurrent erythema following sun exposure, resulting in progressive facial telangiectasia and poikiloderma. The facial rash is commonly in a butterfly distribution across the nose and cheeks and is thought to be further exacerbated by sun exposure. Over time, the rash can also appear on the dorsum of the hands and forearms. In order to better characterize the photosensitivity reported in the literature, all patients with BS in a specialist unit were assessed by a photodermatologist and underwent phototesting. There were five children (three male, two female; age range 7–15 years) with a confirmed diagnosis of BS based on abnormal SCE and detection of pathogenic variants in the BLM gene. Two of the children had skin phototype I–II (ethnicity: Scotland, Poland) and three had phototype IV (ethnicity: one from Pakistan, two from India). None of the children described severe and exaggerated sunburn reactions despite sunny holidays abroad. On examination, there were no facial skin changes, specifically no evidence of telangiectasia or poikiloderma. Following monochromator and solar simulated irradiation, all five had normal immediate and 24-h responses. There were no delayed reactions. In summary, we present five cases of BS without the characteristic finding of photosensitivity, supported by normal phototesting. This is unlike the severe and exaggerated sunburn reactions following minimal sun exposure seen in other DNA repair disorders such as subtypes of xeroderma pigmentosum and trichothiodystrophy. This is the first time that photosensitivity in BS has been objectively assessed, and these phototest findings call into question the idea that photosensitivity is a cardinal feature of this disease entity. Nevertheless, in view of the known increased risk of nonmelanoma skin cancer in patients with BS from their early 30s, regular skin surveillance and sensible sun protection measures remain the mainstay of the dermatological management of these patients.
P050 Certificate of Eligibility for Specialist Registration (CESR) (portfolio pathway) satisfaction survey for dermatology trainees: a comparison of current CESR vs. national trainees, within a large UK teaching hospital
Authors: Sam Hughes, Manpreet Lakhan, Rachael Morris-Jones
Journal: British Journal of Dermatology (2024)

Abstract Over the past 10 years, the UK has seen a consistent rise in the number of dermatology trainees pursuing alternative training pathways to the traditional national training scheme. During this period, the number of trainees awarded a Certificate of Eligibility for Specialist Registration (CESR) more than tripled. This trend appears to be multifactorial, driven by a shortage of national training numbers (NTNs), geographical preferences and a rising number of vacant consultant posts nationally. The CESR route was renamed the ‘portfolio pathway’ in November 2023. It is equivalent to a Certificate of Completion of Training in dermatology. Since 2018, this large teaching hospital has created a CESR training programme that mirrors the NTN programme. In June 2023, a survey was distributed to all dermatology registrars (ST3–ST6) working within the dermatology department. The responses comprised six CESR trainees and 13 NTNs. Modelled on the General Medical Council’s annual National Training Survey, questions were written with grading on a Likert scale, capturing information including training and research opportunities, access to teaching, personal wellbeing and rota design. There were two sections: section 1 was completed by both CESR and national trainees, in order to obtain a direct comparison of training experience, while section 2 was completed exclusively by CESR trainees. Section one revealed that no trainee felt that there was a notable difference in training opportunities or access to teaching, or that there was a perceived difference in clinical competency. All CESR trainees felt that they were treated equally to national trainees, with 50% rating their job satisfaction as ‘very good’, compared with 31% of national trainees. In regard to audits and quality improvement project opportunities, both cohorts felt that the geographical continuity offered with a CESR contract was advantageous, enabling CESR trainees to commit to long-term projects. Conversely, 50% of CESR trainees felt that research opportunities were limited by the 5-year timeframe of the CESR application process. ‘Geographical stability’ was the primary motivator for 50% of trainees pursuing a CESR contract and/or rejecting an NTN. That said, when applying for consultant positions, 67% felt disadvantaged by not having an NTN. This is the first CESR (portfolio pathway) satisfaction survey for dermatology trainees in this hospital. We have collated the experiences of our current CESR trainees, assessing the pros and cons of the pathway, while highlighting the beneficial role of a formalized survey to both monitor and improve their experience. We feel this is imperative, in light of rising number of trainees and the need for dermatologists to be trained via the CESR pathway.
P051 The what, how and why of basal cell carcinoma: natural progression and surgical intervention
Authors: Mun Wai Lam, Helena Wells, Heidi Gibbs, Andrew Zhao, Simon Tso, Aaron Wernham
Journal: British Journal of Dermatology (2024)

Abstract Basal cell carcinomas (BCCs) are slow-growing keratinocyte tumours. During the COVID-19 pandemic, the British Association of Dermatologists and British Society for Dermatological Surgery recommended deferment of surgical treatment for BCCs by 3–6 months unless they were causing significant symptoms or were at higher risk of growth. The deferment of surgical treatment for BCCs provided an unexpected opportunity to evaluate the natural history of BCC evolution given the paucity of evidence and conflicting outcomes of published literature. This study evaluated the natural progression of BCCs while awaiting surgical intervention, to better understand their natural growth and development. We also examined whether delays in surgery had implications on clinical outcomes. Patients with a suspected diagnosis of BCC, who had a surgical procedure planned between February and April 2023, were included in the data collection. Retrospective analysis was performed on the data, including waiting time for surgery, subtype of BCC, the size of the lesion, the location of the lesion, the planned and actual surgery performed and the patients’ symptomatology. Fifty-five patients, with a total of 70 lesions, were included in this analysis. Fifty lesions were found on the face and the others were on the trunk or limbs. The mean sum of BCC size was 91.7 mm2, while a larger mean size of BCCs of 119 mm2 was found on the trunk and limbs compared with the face (mean size 80.8 mm2). Twenty per cent of the cases had a larger procedure than originally planned at the time of booking. A regression ana­lysis showed 0.36 mm2 in growth on average (P &amp;lt; 0.002), and 0.0045% (P &amp;lt; 0.002) each day since presentation. Both values are statistically significant. A positive relationship between growth and time between presentation and surgical appointment (multiple R of 0.36) was demonstrated. The top three symptoms reported include itching (39%), crusting (36%) and bleeding (30%). In conclusion, our data reveal that while awaiting a surgical intervention, a BCC is likely to increase in size. Patients can therefore end up with larger and more complex procedures than originally planned. The symptoms experienced by patients should also be taken into consideration when planning surgery. Traditionally BCCs are not prioritized on a dermatology surgical list, compared with other skin cancers, but our findings demonstrate that a delay in surgical intervention can result in larger procedures being performed, and as a consequence increased morbidity to patients with greater impact on their quality of life.