bluuebunny/crossref_metadata_2025 huggingface dataset:
PA21 A child with longitudinal melanonychia secondary to subungual naevus showing regression during treatment with a single-agent MEK inhibitor (trametinib)
Authors: Guckian Jonathan , Picton Susan , Muinonen-Martin Andrew , Mitra Angana , Shanmugam Sangeetha
Published: June 2024

A 3-year-old boy with type IV skin presented in May 2021 with a 5-month history of a pigmented line in his right fourth fingernail. Examination revealed a 1-mm uniform darkly pigmented band (1.2 mm at proximal aspect) of triangular longitudinal melanonychia with positive pseudo-Hutchinson and negative Hutchinson sign. A clinical diagnosis of benign subungual naevus was made. The patient had a background of neurofibromatosis type 1 and ganglioglioma of the brainstem and right cerebellar peduncle treated with chemotherapy. First- and second-line regimens – vincristine plus carboplatin in 2019–2020, and TPCV (thioguanine, procarbazine, lomustine and vincristine) in 2020 to April 2021 – had been trialled unsuccessfully before dermatology review. In October 2021, the patient commenced trametinib 0.5 mg once daily for his progressive ganglioglioma. Within 4 months, the longitudinal melanonychia had involuted significantly. Dermoscopy demonstrated faded melanonychia with a small residual blueish linear pigmentation remaining proximally (reduced to 0.8 mm). Pseudo-Hutchinson sign was now negative. The patient’s trametinib was discontinued for around 10 days in July 2022 due to mucositis and sepsis and his melanonychia subsequently darkened and extended further distally over the following 3 months. In November 2022 his trametinib dose was decreased to 0.37 mg due to ongoing mucositis and infection. However, the dark band was not as pronounced as at the initial presentation. He remained on the reduced trametinib dose, and by January 2024 the melanonychia had faded and appeared as a 1-mm uniform pale-brown longitudinal streak. He also developed multiple new naevi on his face, trunk, buttocks and genital area during this period. Trametinib, a mitogen-activated protein kinase kinase (MEK) inhibitor, has been used in targeted therapies against various malignancies, including in combination with BRAF inhibitors against metastatic melanoma. A lesser-reported complication of targeted therapies includes ‘lightening’ of pigmented naevi. Hypopigmentation, or involution or regression has been reported in patients receiving single-agent BRAF inhibitor or combined BRAF–MEK therapy. However, ours is the first reported case of a single-agent MEK inhibitor causing regression of a subungual naevus as a side-effect. The mechanism behind naevus involution in patients receiving targeted therapy is unclear, with proposed models focusing on the impact of BRAF rather than MEK inhibition. This case highlights a stark temporal relationship between trametinib therapy and the involution and subsequent redevelopment of a benign longitudinal melanonychia. This adds to our growing understanding of the impact of targeted therapies on melanocytic naevi, which patients and doctors should be aware of.
PA31 Traction alopecia in the paediatric Sikh population
Authors: Sharma Akash , Halpern James , Cuell Alexis , Ramesh Raakhee , Hunjan Manrup
Published: June 2024

Sikh boys and girls, traditionally, keep their hair long and tend to tie it up in a knot over the vertex of their scalp; this is colloquially referred to as a ‘jura’. The repeated traction on the hair coupled with the weight of hair often leads to a distinct hair loss pattern that can be concerning and distressing for patients and parents alike. We describe two cases of traction alopecia in young Sikh boys, who presented to our tertiary paediatric service. The first case is 14-year-old boy who presented with reduced hair density of hair follicles and recession of the frontotemporal hairline. Similarly, the second case was a 14-year-boy, who presented with increasing hair loss over the frontal scalp. He had been tying his hair in a jura since the age of 4 years. He was also vitamin B12 deficient and on replacement treatment. With both cases the hair loss was particularly prominent over the frontotemporal scalp and was distributed in a bandlike pattern. There was sparing of the eyebrows, eyelashes and body hair. Trichoscopy findings included mild perifollicular scale without erythema, single follicular hair units and perifollicular inflammation. In both patients the initial diagnosis was traction alopecia with coexisting seborrhoeic dermatitis. Histology from scalp biopsies demonstrated intrafollicular coverage and follicular distortion with absence of inflammatory infiltrate. This was in keeping with the clinical impression of traction alopecia. Hair loss can have a profound impact on quality of life in both the paediatric and adult populations. In those with traction alopecia, early intervention is paramount in order to prevent progression and aid recovery of hair. Thus, we advised our patients to avoid putting their hair up in a tight jura for long periods of time, whenever feasible, as well as advising that hair be left open or loosely tied in a bun or ponytail. For topical treatment, minoxidil 2% or 5% foam can be tried to see whether it will help regrowth; however, this is within the remits of tolerability. Any coexisting diagnoses, such as seborrhoeic dermatitis, should be treated, and if there are doubts with regards to diagnosis, or features of a scarring alopecia, then it would be prudent to do a biopsy. These cases highlight a pattern of reversible hair loss seen in the Sikh paediatric population. It is important for dermatologists to recognize this, in order for early intervention and education on a potentially reversible condition.
BI10 Nonmelanoma skin cancers and immunosuppression: identifying keratinous red flags
Authors: Tuckwell William , Omenyo Ruth , Malladi Nitya , Patel Girish
Published: June 2024

Immunosuppression increases the risk of keratinocyte carcinomas, squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), notably among organ transplant recipients on immunosuppressant therapies (Lanz J, Bouwes Bavinck JN, Westhuis M et al. Aggressive squamous cell carcinoma in organ transplant recipients. JAMA Dermatol 2019; 155: 66–71). Whether actinic keratoses (AKs), as treatable precursors for keratinocyte carcinoma, are more frequently associated with SCC and BCC in patients who are immunosuppressed remains to be determined. Our null hypothesis was that the AK frequency and grading should be similar between immunocompetent and immunosuppressed individuals with SCC and BCC. All keratinocyte carcinoma excisions for 2021 were retrospectively reviewed. Immunosuppressed individuals were identified from electronic records using the terms ‘immunosuppression’, ‘transplant’, ‘lymphoma’ and ‘chemotherapy’ and a review of current medication. Patient photographs were used to identify, enumerate and grade (Olsen grading) AKs in the surrounding anatomical region. A two-tailed χ2-test of independence was used to test the null hypothesis. A total of 827 keratinocyte carcinomas were excised in this centre, for which medical photography before excision was available for 728 keratinocyte carcinomas. Of the 286 patients with SCC and 432 patients with BCC, AKs were present in the anatomical region in 226 patients with SCC (79.0%) and 260 patients with BCC (60.2%). The head and neck was the most common site of keratinocyte carcinoma [202 patients with SCC (70.6%); 240 patients with BCC (55.6%)]. A total of 93 individuals (13%) were defined as immunosuppressed [61 patients with SCC (21%); 32 patients with BCC (7%)]. The frequency of AKs surrounding SCC was 1.11-fold greater in immunosuppressed (44 of 51, 86%) vs. immunocompetent (182 of 235, 77.4%) patients, but did not reach statistical significance. Olsen grade 3 AKs were more prevalent in immunosuppressed individuals with SCC (P < 0.05). Among patients with BCC, 85% (n = 23) of immunosuppressed and 59% (n = 237) of immunocompetent patients had AKs within the anatomical region (P < 0.01). Keratinocyte carcinomas in immunosuppressed individuals often have AKs within the surrounding anatomical region, which are often hyperkeratotic. Therefore, strategies for treating field cancerization in immunosuppressed individuals should also address the presence of hyperkeratotic AKs.
BI39 Oncological therapies and hair disorders: a narrative approach on permanent chemotherapy-induced alopecia. A literature review of cancer-related therapies and their associated hair and scalp disorders
Authors: Goncalves Rui , O’Donoghue Nuala , Harries Matthew , Asfour Leila
Published: June 2024

Alopecia is known to be one of the most psychologically distressing side-effects of chemotherapy. Patients view it as a constant reminder of the illness and it is frequently associated with distorted self-perception and social isolation. Studies suggest that 8% of women would decline chemotherapy because of their concerns regarding hair loss (Freites-Martinez A, Shapiro J, van den Hurk C et al. Hair disorders in cancer survivors. J Am Acad Dermatol 2019; 80: 1199–213). Permanent chemotherapy-induced alopecia (pCIA), with an incidence of 15–30% in patients with breast cancer, is a nonscarring, diffuse alopecia often resembling androgenetic alopecia. This patient-led narrative focuses on the experiences of two women with chemotherapy-induced alopecia regarding information and advice received pretreatment, the impact on self-esteem and suggestions for improving support for patients in similar circumstances. We present these patients to highlight this increasingly recognized phenomenon. We report patients’ perspective on pCIA in a 31-year-old who was treated with chemotherapy at the age of 15 years for aplastic anaemia and a 60-year-old who received chemotherapy for breast cancer. Both patients stated they were not informed of the impact and duration of alopecia, which they felt was presented as a ‘simply cosmetic side-effect’ that ‘would grow back’. This led to them thinking it would be a temporary consequence, easily amendable with ‘being fitted for a wig (to use) for a short period’. When they experienced alopecia, the impact was severe and disabling: ‘I felt like being hit by a train when I realized this was permanent’; ‘had a nervous breakdown’. Additionally, commonly used measures to overcome this side-effect were not seen as helpful: ‘Initially I struggled to wear wigs as I felt they were uncomfortable and did not look natural.’ Alopecia affected their sense of femininity and limited their activities because of the anxiety caused by wearing a wig or hat in social contexts. In addition to contributing to increased levels of social anxiety, the effects on self-esteem were profound: ‘I often do not feel “womanly” or feminine due to the hair loss. I feel it makes me look old, ill and witch-like. Whilst wigless, I view myself as disgusting.’ Both patients have been keen to trial pharmacotherapies to help address their hair loss. There is an increased awareness in mainstream and social media in relation to cancer-related therapies affecting hair growth permanently. With growing numbers of people surviving cancer, increasing emphasis is appropriately now placed on post-treatment quality of life. Our presentation aims to highlight the different hair and scalp disorders associated with chemotherapy-, radiotherapy- and immunotherapy-related treatments to support dermatologists in managing these patients and advising oncology teams.
BI40 A common conclusion to an uncommon case
Authors: Liu Bo , Khan Farishta , Lee Ava
Published: June 2024

Dermatophytes are a prevalent cause of superficial skin infections, affecting approximately 20–25% of the global population. Mortality as a result of dermatophytes is low; however, rising cases of recurrent and recalcitrant dermatophytoses owing to emerging antifungal resistance pose a significant health challenge. Early diagnosis and adequate treatment can significantly reduce morbidity and improve patients’ quality of life. We present the case of a 57-year-old woman with a background of precursor B-cell acute lympho­blastic leukaemia diagnosed in 2019. Her disease was stabilized on ponatinib over the last 1.5 years following failed treatment with conventional chemotherapy, allogeneic bone marrow and T-cell transplants and multiple tyrosine kinase inhibitors. She was referred by the haematology team, with a 3-week history of a symmetrically distributed erythematous annular rash that was well demarcated and scaly on her face, trunk and limbs, with large islands of sparing on her trunk. The rash had a burning and itchy quality. Prior to referral, she had 8 days of oral prednisolone 20 mg once daily for what was initially suspected to be graft-versus-host disease and her skin improved slightly with less inflammation. The differential diagnosis list remained broad. She was initiated on Dermovate ointment. Biochemistry and immunology lab investigations were unremarkable. Mycology cultures of skin scrapings were negative; however, a skin punch biopsy taken from a fresh erythematous edge showed histological features in keeping with a dermatophyte infection. She achieved full clearance of her rash following a 6-week course of oral terbinafine and fluconazole at intervals. This case demonstrates the atypical presentation of a common skin infection in an immunocompromised host that can mimic many dermatological conditions. This is particularly important when the addition of steroid treatment could alter a common presentation even further. This case reminds us that common causes can still be common, including in atypical presentations, where treatment outcomes can be satisfying and rewarding when combined with good clinical history taking. Importantly, to combat rising resistant dermatophyte infections, it is now even more prudent to not miss this common diagnosis.
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

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

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

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

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>A (p.Cys107Ter) variant. One case was compound heterozygous for the c.321C>A and likely pathogenic c.283G>A (p.Glu95Lys) variants. The fifth case was found to be compound heterozygous for the c.321C>A and pathogenic c382C>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

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

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>G pathogenic variant and the c.899A>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

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

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.
BT12 Great expectations: implementing artificial intelligence software into a regional skin cancer teledermatology service
Authors: Walker-Smith Philippa , Christie Anne-Marie , Scott Annabel , Chandrakumar Arani
Published: June 2024

Every year 2-week rule (TWR) referrals for skin cancer are increasing, reflected at both national and local level, and they are projected to rise further. The number of substantive staff in dermatology is not increasing and innovative solutions are necessary. We present an evaluation of a south-east UK dual-site teledermatology TWR service 1 year after implementation of the artificial intelligence software DERM, provided by third-party Skin Analytics (SA). Our TWR service successfully initiated a photodermatology service by use of a ‘PhotoHub’ for skin lesions. SA DERM was subsequently implemented to analyse these images and autonomously triage the patients into (i) TWR referral to secondary care dermatology, (ii) benign and for automated discharge, or (iii) ‘other’ diagnosis for general practitioner or community review. Lesions deemed benign by DERM underwent a safety-net review by an SA consultant dermatologist prior to discharge. Patients referred to secondary care dermatology were reviewed on a virtual platform by a trust consultant dermatologist to determine an appropriate pathway. SA DERM aimed to (i) speed up local cancer diagnosis, (ii) reassure patients with benign lesions faster, (iii) support workforce capacity and (iv) be cost-effective. Over a 12-month period (July 2022 to July 2023), 1599 patients seen in the PhotoHub underwent analysis by SA DERM. By the end of the pilot around 30% of the monthly TWR referrals were being analysed. SA DERM had a correct automated discharge rate of 20%. In total, 50% of cases were referred directly to trust dermatologists for further triage via the SA online platform. Overall, 41% of patients analysed by SA DERM avoided urgent face-to-face appointments. SA Derm demonstrated > 95% target sensitivity for melanoma and squamous cell carcinoma and > 90% for basal cell carcinoma and premalignant lesions. Patient and end users reported a 75% positive experience. The hospital skin cancer performance target increased from 36% to 95%. Clinicians have been surveyed on their experience. In conclusion, SA DERM helps manage the continued increase in TWR referrals. It demonstrated an improvement each quarter as the software was established. However, a large proportion of teledermatology images requiring triage remained, with the subsequent administrative burden. Future local challenges include encouraging community referrals via the PhotoHub and addressing the waiting list backlog for ‘routine’ appointments so this pathway can be utilized for lower-grade skin lesions. Clinician concerns remain. Ongoing engagement with AI solutions is likely to be required to develop skin cancer services fit for future demand.
BT28 Analysis of a single practitioner’s teledermatology processing decisions in an established teledermatology service over a 12-month period
Authors: Tuckwell William , Winter Sarah , Motley Richard
Published: June 2024

In our department, teledermatology has been the default referral pathway from general practice since August 2016. In the 12 months to August 2022, 19 995 teledermatology referrals were processed by 10 consultant dermatologists (8 whole-time equivalents). This analysis reviewed the diagnoses and outcomes of 2667 consecutive teledermatology referrals, processed by one of these consultants, with a special interest in skin cancer, over that 12-month period. Data collected from the National Clinical Patient Database included the initial teledermatology referral and response and, where appropriate, details of subsequent clinic attendance and histology reports. Duplicate referrals (n = 64) and referrals redirected to colleagues (n = 82) were excluded from the analysis. In total, 157 (6%) referrals were rejected by the teledermatologist, either because they were submitted without a photograph (n = 41), the photograph was inadequate (n = 78), the incorrect photo was attached (n = 3), the history was insufficient (n = 21) or there were other factors such as request for services not offered or advice had already been provided (n = 14). Overall, 1391 (52%) referrals were returned to the general practitioner with diagnosis and/or management advice, and 973 (36%) patients were accepted onto the dermatology waiting list for subsequent review in clinic. Of these, 155 were accepted to rule out melanoma. During the period of assessment, 632 of the patients who had been accepted onto the waiting list had been reviewed in clinic: 96 (72%) of those with a telediagnosis of basal cell carcinoma (BCC) were confirmed to have BCC, 61 (30%) of those with a telediagnosis of squamous cell carcinoma (SCC) were confirmed to have SCC, 16 (57%) of those with a telediagnosis of melanoma were confirmed to have melanoma, and of those accepted to rule out melanoma, 14 (9%) were confirmed to have melanoma. Teledermatology provides a ‘snapshot’ of a skin disease with limited clinical information and photographs. The teledermatologist must decide whether the information provided is adequate to make a confident diagnosis and management plan. Our analysis showed that most teledermatology referrals were considered adequate for the purpose, and just over one-third needed to be seen in clinic. It also demonstrated the superior diagnostic accuracy of face-to-face consultations over teledermatology. Teledermatology is an excellent tool for dermatology triage, and in this analysis it reduced the need for face-to-face consultations by > 60%.
BT29 Modelling the cost-effectiveness of an artificial intelligence as a medical device
Authors: Zhelev Zhivko , Puttergill David , Kalsi Dilraj , Mullarkey Dan , Hyde Christopher
Published: June 2024

Dermatology services are facing rising demand with limited workforce and resources. Artificial intelligence as a medical device (AIaMD) may offer a way to expand capacity and improve patient outcomes. The aim of this project was to develop a cost–utility health economic model of an AIaMD used for the screening, triage and assessment of lesions suspicious for skin cancer using dermoscopic images. This report focuses on the triage of patients referred by general practitioners on the dermatology urgent suspected cancer pathway. The AIaMD assessment takes place in a photo clinic and the images and medical history are subsequently assessed by a specialist (teledermatology). The aim of the AIaMD triage is to identify patients with noncancerous lesions who could be discharged. Four diagnostic strategies are compared: face-to-face assessment (comparator), teledermatology (comparator), AIaMD, and AIaMD with a dermatologist second read (AIaMD_SR). A decision tree with Markov models at the terminal nodes was constructed to estimate the long-term costs and outcomes in quality adjusted life-years (QALYs) of each intervention. Three diagnostic categories were considered: (i) high-risk cancer (including melanoma, squamous cell carcinoma and rare cancers), (ii) basal cell carcinoma and (iii) noncancerous (benign or precancerous) lesions. The model has a life-time horizon (up to age 100 years), it takes National Health Service and personal social services perspectives, and the costs and benefits are discounted at an annual rate of 3.5%. One-way and probabilistic sensitivity analyses were conducted to quantify any uncertainty in the model. Modelling shows that the AIaMD_SR and AIaMD interventions are more effective and less costly than face-to-face assessment and teledermatology. The cost per QALY threshold set by the National Institute for Health and Care Excellence is £20 000–£30 000. The most cost-effective interventions were DERM_SR at a willingness-to-pay (WTP) threshold of £30 000 and DERM at WTP threshold of £20 000. The results were confirmed by the sensitivity analysis. Cost savings are due to reduced face-to-face appointment and biopsy costs. Savings are calculated as £52 per patient, £259 000 for an average trust or £35 million for NHS England. QALY benefits are due primarily to reduced patient anxiety and biopsies. The relatively small changes to false negatives between the interventions and standards of care do not have a significant an impact. Capacity modelling showed that only the AIaMD intervention is likely to significantly reduce total dermatologist workload compared with face-to-face care, with a reduction of 15%. Some parameter uncertainty exists, reflecting a paucity of baseline data, which will be investigated further with refinement of the model as more data becomes available. This modelling work was funded as part of the NHS AI in Health and Care Award. Three of the five authors are employed by the AI provider.
BT37 Can patients with psoriasis and eczema support their self-management by being involved in care decision making?
Authors: Aldeen Taha
Published: June 2024

Eczema and psoriasis are often associated with psychological and metabolic comorbidities. They usually require long-term medical care. Currently, no intervention is available to regularly assess such patients’ needs and comorbidities and support their involvement in decision making and self-management. The objective of this study was to explore the acceptability and potential of a self-developed questionnaire (study tool) in addressing the needs, comorbidities and feedback of patients with psoriasis and eczema, to support their involvement in decision making and self-management of their chronic conditions. A mixed-methods study was conducted that included a postal survey on adult male and female patients with psoriasis and eczema. The study tool contained the Dermatology Life Quality Index and seven supplementary open-ended questions to capture patients’ views, feedback, comorbidities, coping status and needs. The survey was followed by semistructured face-to-face interviews with a sample of the patients who had participated in the survey. The final study involved sharing the research findings along with a prototype of the proposed online version of the study tool with a group of healthcare professionals. Of the 114 patients who participated in the postal survey, 108 (94.7%) expressed physical, metabolic and psychological comorbidities. Stress was identified as the dominant disease-triggering factor in 72 (63.2%) participants. Thirty-three (28.9%) participants reported that they could not cope with their chronic illness. Eighteen (15.8%) had anxiety, and 12 (10.5%) had depression and suicidal thoughts. Twenty-nine (25.4%) participants addressed their needs for support at home, and 16 (14.0%) of them asked for support at work. In the interviews, all the participants (22, 100%) welcomed the use of the study tool on a regular basis to support their needs and feedback. Nineteen (86%) of them preferred using an online version of the tool (portal system) as a convenient way of remote and interactive communication with the healthcare provider, particularly during the worsening of their skin condition. In the final study, the healthcare experts agreed that the proposed online version of the study tool (portal) would be a convenient platform for such patients to address their unmet needs, comorbidities and feedback. It can be designed to provide access to supportive services including links to patient information on skin diseases, local mental health services, patient forums and other relevant support groups and charities. In conclusion, the study tool has the potential to regularly engage and assess patients’ unmet needs, comorbidities and feedback. All the interviewees welcomed regular use of the study tool. The use of an online version of the tool can have the potential to fill important gaps in patient self-management and in health service improvement.