bluuebunny/crossref_metadata_2025_split huggingface dataset:
PA33 Paediatric and adolescent hidradenitis suppurativa: a snapshot of a single centre’s experience
Authors: Griffin Laoise , Eve Katherine , Lenane Patsy , Browne Fiona 
Published: June 2023

Abstract
Hidradenitis suppurativa (HS) is a chronic inflammatory debilitating condition that primarily affects younger people. Its exact prevalence is unknown, but it is estimated to affect at least 1% of the Irish and UK population. Onset is late adolescence and the early 20s in the majority. The impact of early-onset HS (&lt; 18 years) is increasingly recognized, but awareness and knowledge of disease prevalence and severity in Ireland remain sparse. Studies in adults highlight association with a raised body mass index (BMI) and smoking, in addition to an increased prevalence in young females with African American or mixed ancestry. Presently, there is an absence of specific guidelines for management in those aged &lt; 18 years. With rising obesity levels, combined with decreasing pubertal age, we may encounter early-onset HS more often in future. We present a snapshot of patients with HS attending a single paediatric hospital who were considered for systemic therapy. Ten patients were included (eight females). Mean (SD) age of symptom onset was 12.4 (1.9) years, mean (SD) age of presentation was 14 (2.1) and mean duration of symptoms prior to presentation was 1.5 years. Nine received systemic therapy (nine antibiotics and four biologics). Disease severity, defined by Hurley stage, was mild in one, moderate in five and severe in four. All patients had achieved puberty, one was defined as early-onset (age 10 years) and another as precocious (age 9 years). The BMIs varied: one was normal, two were above a healthy weight, five were very overweight and three were severely overweight according to UK centiles. Most patients experienced comorbidities, including, but not limited to, Crohn disease (n = 1), hepatic steatosis (n = 2), pilonidal sinus (n = 3) and acne (n = 5). One had diabetes, two impaired fasting glucose and one hypercholesterolaemia. No patient reported smoking. Passive smoking and blood pressure were not documented. Four patients had positive family histories. Six patients identified as Black Irish (one Irish Caribbean and five Irish Nigerian), two were White Irish, one patient was from India and one was from Poland. We describe a group of individuals aged ≤ 16 years, the majority of whom had moderate–severe HS. They had similar comorbidities to internationally reported literature in early-onset HS. More skin of colour ethnicities are represented than seen in the general Irish population, which probably reflects both the catchment area and severity of the skin conditions experienced. The limitations of our study include under-representation of milder disease due to an inability to perform a full cross-sectional study at present. Further prospective studies are required to capture the prevalence and characteristics of HS fully in our population of children and young adults. Considering the lifetime impact of this condition, guidelines for the management of HS under the age of 18 years should be considered.
PD01 First UK report of pregnancy and childbirth in X-linked erythropoietic protoporphyria
Authors: Schulenburg-Brand Danja , Powell James , Srivastava Pushplata , Swingler Rebecca , Peek Russell 
Published: June 2023

Abstract
X-linked erythropoietic protoporphyria (XLEPP), an exceptionally rare form of cutaneous porphyria, is characterized by significant acute painful photosensitivity and a risk of both reduced bone mineral density and protoporphyric hepatopathy that may progress to liver failure. Diagnosis requires demonstration of significantly elevated red cell total porphyrins consisting of both zinc and free protoporphyrin analysed on venous whole blood. As the condition is X-linked, any offspring of an affected woman has a 50% chance of inheriting the disease-causing ALAS2 gain-of-function mutation. There are no reported cases of pregnancy in XLEPP in the literature, and no published experience of managing newborn infants that may have inherited XLEPP who develop neonatal jaundice, which requires treatment with phototherapy. Here we describe the clinical course of a 29-year-old woman with XLEPP (part of a four-generation XLEPP family) and idiopathic thrombocytopenia during pregnancy—the first documented case in the UK, to our knowledge. A multiprofessional team considered the potential risks posed by XLEPP and idiopathic thrombocytopenia for the pregnancy, birth and newborn. Haematological and biochemical indices were monitored throughout the pregnancy. The mother experienced increased photosensitivity and worsening idiopathic thrombocytopenia during the pregnancy, the majority of which occurred over summer. Idiopathic thrombocytopenia did not respond to treatment with steroids and immunoglobulin, necessitating a general anaesthetic for the planned caesarean section. A male infant was born in good condition at term. Maternal blood loss was only just above average. The baby remained well in the immediate postnatal period. Although the baby did not require treatment for jaundice, management planned in advance included minimizing factors predisposing to jaundice, including optimal timing of cord clamping and early feed support, the urgent analysis of cord blood erythrocyte porphyrins within 24 h, using a light-emitting diode phototherapy device with narrow spectrum emission between 450 and 470 nm and minimal emission at 400 nm, monitoring the baby closely for signs of distress and skin changes, and considering adjustment of the phototherapy thresholds or using alternative treatments should jaundice occur. Cord blood erythrocyte total porphyrin results suggested the baby had inherited XLEPP and would be photosensitive. This was later confirmed by mutation analysis.
PD06 Efficacy of dupilumab in chronic actinic dermatitis
Authors: O’Reilly Marese , Paolino Alexandra , Salam Amr , Pathmarajah Pirunthan , Ferguson John , Dawe Robert S , Sarkany Robert , Smith Catherine S , Pink Andrew E , Fassihi Hiva , Ibbotson Sally 
Published: June 2023

Abstract
Chronic actinic dermatitis (CAD) is characterized by a photoexposed site dermatitis in association with objective evidence of photosensitivity, often arising on a background of atopic dermatitis (AD). Dupilumab is a monoclonal antibody that inhibits signalling of interleukin (IL)-4 and IL-13 and is licensed for the management of moderate-to-severe AD. To date, nine case reports have suggested that dupilumab can be clinically effective for CAD, yet only five cases had diagnostic baseline phototesting and only two cases could demonstrate objective improvement in photosensitivity on repeat testing. We report a retrospective case series from two UK photobiology units of 11 patients with concomitant AD and CAD treated with dupilumab. Inclusion criteria included baseline phototesting with an irradiation monochromator device confirming a diagnosis of CAD &lt; 3 years prior to starting dupilumab, phototesting repeated after at least 16 weeks on dupilumab and all patients included were refractory or intolerant to at least one other systemic therapy prior to dupilumab. Eleven patients [82% male, median age 40 years (range 21–59) at diagnosis] of skin phototypes I–V were included. All patients had a pre-existing diagnosis of AD before the onset of CAD, and two patients also had a pre-existing diagnosis of allergic contact dermatitis. The average duration of dupilumab therapy prior to repeat phototesting was 15 months (range 4–44). Ten of 11 (91%) patients reported improvement in their AD in terms of both rash and pruritus. Five of 11 patients (45%) reported partial improvement in their subjective photosensitivity of whom two showed ultraviolet B monochromator improvement (3- to 6-fold). Six of 11 (55%) patients reported no clinical change in photosensitivity of whom two showed no improvement or worsening on phototesting; while four showed improvements, they remained in the severely photosensitive range on phototesting. While dupilumab is an effective therapy for moderate-to-severe AD, its potential benefit in managing CAD is more difficult to measure. In 91% of patients with CAD, dupilumab was associated with improvement in AD, while clinical or objective improvement in photosensitivity occurred in 82%, albeit sometimes only to a slight degree. However, these data suggest that, for patients with CAD and concomitant AD, reducing the eczematous response is beneficial and that dupilumab is a treatment worth exploring for this patient cohort for whom other treatment options are limited. Prospective studies of dupilumab in CAD are required to further evaluate its utility in this therapeutically challenging condition.
PD13 Severe cutaneous manifestations in an Indian child with X-linked dominant erythropoietic protoporphyria
Authors: Srinivas Sahana , Moss Celia 
Published: June 2023

Abstract
Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations in FECH: raised protoporphyrin levels cause itching, burning and erythema after sun exposure, with facial scarring and sometimes liver damage. We report a child with the much rarer X-linked dominant form (XLDPP) and consider reasons for his unusually severe features. A 4-year-old boy living in India presented with long-standing erosions and scarring on the face and sides of the feet, and marked distal onycholysis with subungual hyperkeratosis affecting all nails, suggestive of pachyonychia congenita (PC). There was no relevant family history or parental consanguinity. He was anaemic (haemoglobin 7.2 g dL−1). Genetic testing revealed no variants in PC genes, but there was a hemizygous deletion in ALAS2, c.1706_1709del (p.Glu569GlyfsT er24) reported recurrently in XLDPP. Further review revealed a history of photosensitivity, low vitamin D3 and raised liver enzymes. Measurement of erythrocyte protoporphyrin was not available, but XLDPP was diagnosed on the basis of photosensitivity, liver abnormalities, probable photo-onycholysis and genetic testing. ALAS2 encodes 5-aminolaevulinate synthase, the first enzyme in the haem synthetic pathway. Most ALAS2 mutations block haemoglobin production resulting in sideroblastic anaemia. However, specific deletions, including this one, activate the pathway, increasing protoporphyrin to levels higher than what can be used in haematopoiesis. The manifestations of XLDPP therefore resemble EPP: protoporphyrin accumulation is caused in the former by increased production and in the latter by a block in its conversion to haem. Iron deficiency, common in Indian children, reduces haem production and consequently protoporphyrin utilization, potentially exacerbating the protoporphyrin accumulation caused by XLDPP. In a previous patient with XLDPP and anaemia due to gastrointestinal bleeding, iron therapy successfully lowered red cell protoporphyrin levels (Whatley SD, Ducamp S, Gouya L et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008; 83:408–14). Nail dystrophy has not previously been reported in XLDPP. The appearance here is consistent with photo-onycholysis in a child whose feet are always exposed in sandals. The delay in diagnosing photosensitivity and severity of his skin changes can be attributed to the difficulty in interpreting symptoms in young children and to local conditions where sun exposure is unavoidable. Management here involves iron therapy, photoprotection, monitoring of liver function and genetic counselling; female carriers may also have symptoms. We are grateful to national experts for helpful discussion of this case.
PD14 Audit of urgent phototherapy referrals
Authors: Dissanayake Perera Apeksha Shyamalie , Rajasekaran Amirtha 
Published: June 2023

Abstract
The British Association of Dermatologists’ (BAD) phototherapy guidelines state that patients referred urgently for phototherapy should start treatment within 3 weeks of referral and that if the patient is considered to require treatment urgently, then it should be started as soon as possible, to reduce patient discomfort and avoid the need for hospital admission. The prepandemic waiting time for urgent referrals, according to an audit in March 2021, was 6 weeks, but this time was even longer postpandemic. During the COVID-19 pandemic lockdown, the phototherapy service was suspended and then resumed in reduced capacity in our unit. The pandemic is also likely to have affected disease severity and patient’s concerns about treatment with systemic options. Our audit objective was to identify the time taken between referral to treatment start time for urgent referrals. Secondary objectives were to identify whether there was any prevalence of certain disease categories in deciding upon urgent referrals, and to identify if severity assessment scores were checked prior to urgent referrals by referring clinicians as per local guidelines. The audit was conducted retrospectively by including all urgent phototherapy referrals for 6 months between January and June 2022. Sixty-four urgent referral forms were analysed. The time taken between referral to treatment start time was 12 months. The majority of the urgent referrals (73%) were for eczema, 16% for psoriasis and 5% for mycosis fungoides. Other conditions such as polymorphic light eruptions, lichen planus and macular amyloidosis totalled 6% of referrals. Only 26% of referrals had documented disease severity scores. Thirty per cent of the referrals were &lt; 18 years of age; young adults (19–25 years) accounted for 19% of referrals. Time taken between referral to treatment start time was 12 months, which significantly exceeded BAD standards. A number of factors affected this, including the impact of the COVID-19 lockdown on services and treatment capacity, patient choices and escalation of disease severity in lockdown, increased referrals with severe skin disease, preference in certain age groups such as children, and psychosocial factors. Patients with severe skin disease needing urgent treatment should be carefully triaged to receive treatment urgently, to avoid admission. Clinicians should assess this appropriately on a case-by-case basis and document disease severity scores and impact of skin disease in all urgent referrals.
PS06 The beast beneath the blisters: assessment of depression and anxiety in patients with immunobullous disorders in a tertiary referral centre
Authors: Ryan Sarah , Lee Eunice , Salih Hamisha , Radcliffe Jenny , DeGiovanni Claudia 
Published: June 2023

Abstract
Immunobullous diseases can be disabling in the acute phase, causing widespread painful or pruritic skin and mucosal lesions. The subsequent psychological consequences of these disorders have not been fully evaluated. We treated a 53-year-old woman for severe bullous pemphigoid affecting her skin and oral mucosa. Following resolution of disease, she was left with debilitating anxiety and depression. This case prompted us to look at the psychological impact of immunobullous disease in our cohort. We used the Patient Health Questionnaire (PHQ-9), General Anxiety Disorder (GAD-7) and Dermatology Life Quality Index to establish the psychosocial impact in patients attending the immunobullous specialist clinic at a large tertiary dermatology centre. An assessment of pain using a numerical pain-rating scale and a question regarding any pre-existing mental health conditions were included. Twelve patients with various immunobullous conditions were surveyed. Seventy-five per cent (n = 9) of patients were identified as having a mood disorder via their PHQ-9 and GAD-7 scores. The PHQ-9 scores indicated mild (50%), moderate (17%) and severe (8%) depression symptoms in these patients. Twenty-five per cent and 17% of patients had a GAD-7 score indicating mild and moderate anxiety, respectively. Three patients declared that they had a previous mental health diagnosis; however, only mild depression and mild anxiety were identified in two of these patients. Only one of these patients volunteered mental health symptoms during their consultation, indicating an unrecognized burden of disease in this community. Our findings support previous research indicating high rates of depression in patients with immunobullous disease. Furthermore, there is an established association between bullous pemphigoid and neuropsychiatric conditions, with identification of autoantigen expression in the central nervous system. Mood disorders have a significant effect on patients’ experience of disease, and are likely to have an impact on disease course and engagement with treatment. A large European study found that dermatologists underestimate the severity of mood disorders. Therefore, the incorporation of validated measures for assessment of mood disorders such as PHQ-9 and GAD-7 into clinical practice is essential to identify the high proportion of patients with immunobullous disease suffering from these disorders. Quality of life measures, which are commonly assessed, are not sufficient for holistic management of these patients. These findings support the invaluable role of a psychologist within dermatology centres, and appropriate referrals to these services will improve with assessment during clinic consultations.
PS07 Delusional infestation: are delays in access to care adversely affecting patient outcomes? A case series
Authors: Angus Janet , Hutchison Eliza , Davies Jo 
Published: June 2023

Abstract
Delusional infestation (DI) is the fixed, false belief of pathogenic infestation of the skin or body, despite no supporting medical evidence. Patients may be difficult to treat successfully, because of their reluctance to accept referral or involvement of psychiatric services. Research consistently supports assessment of this cohort in multidisciplinary psychodermatology clinics, where integrated medical and psychiatric care can be seamlessly provided. The British Association of Dermatologists (BAD) All Parliamentary Group has recommended increased psychodermatology services across the UK, but provision is still scanty. We report a review of 49 consecutive patients (12 men and 37 women) with a diagnosis of DI assessed in a regional psychodermatology service. Mean patient age was 63 years (range 41–92). Mean duration of symptoms before attending was 4.9 years. Forty-one (84%) patients complained of living creatures, with the other eight (16%) perceiving fibres or other inanimate objects. Perception of nonliving mater­ial was strongly associated with substance misuse. Low-dose antipsychotics were prescribed in 44 (90%) patients. Risperidone (n = 39; 89%) and olanzapine (n = 5; 11%) were the drugs prescribed. Medications were well tolerated, with no significant adverse side-effects reported. Twenty-three (47%) responded to treatment. Four patients developed full-blown psychotic disorders. We were unable to engage 13 (27%) patients in treatment, and in three (6%), the treatment outcomes were unknown. Responders had a mean time to presentation of 3.7 years vs. nonresponders who had symptoms for an average of 5.9 years. Ten (20%) patients admitted to current or previous substance misuse. Twenty-one (43%) had a history of psychiatric disease. Substance misuse and established psychiatric disorders were associated with poorer engagement and response. Response to treatment and engagement with services is multifactorial. This review demonstrated that delays in presentation are associated with poorer outcomes (Romanov DV, Lepping P, Bewley A et al. Longer duration of untreated psychosis is associated with poorer outcomes for patients with delusional infestation. Acta Derm Venereol 2018; 98:848–54). In 2016, early intervention in psychosis services was introduced as a National Institute for Health and Care Excellence standard in the UK. In psychiatry, there is well-established evidence of the relationship between delays in treatment of psychosis and poorer outcomes. The BAD guidelines have recently been published to encourage more widespread prescribing of low-dose antipsychotics to expedite treatment. Our review highlights that all patients with DI face significant delays to treatment, which may adversely impact or increase the complexity of clinical presentations. This review emphasizes the importance of early assessment and supports the expansion of psychodermatology services.
BT04 Efficient triaging of advice and guidance referrals using teledermatology via the National Health Service Electronic Referral System platform: reporting positive outcomes from the COVID-19 era
Authors: Efstathiadou Anthoula , Beck-Sander Kellen , Woo Wen Ai , Cooper Hywel , Mitchell Charles 
Published: June 2023

Abstract
The provision of teledermatology in National Health Service (NHS) practice has increased markedly over the last decade. The e-Referral System advice and guidance (A&G) is a platform through which teledermatology services can be provided. It was first implemented in our university teaching hospital department in 2016, but extensive use of this system started during the COVID-19 pandemic. Recognizing the practicality of A&G’s ongoing use to triage referrals efficiently, it was made compulsory for all routine referrals to our department in January 2021. We report on A&G triage use on health service outcomes over a 4-year period (June 2019–June 2022). Retrospective analysis of datasets from four timepoints was chosen for comparison: the month of June in 2019, 2020, 2021 and 2022. The main outcomes analysed were total number of A&G requests, number converted to referral, number returned with advice, percentage of discharges at first attendance and referral to treatment (RTT) waiting time performance (defined as percentage of referrals seen in &lt; 18 weeks). The A&G requests increased appreciably over the study period; only 45 requests received in June 2019, increasing to 965 in June 2020 and 1384 in June 2021, and remaining stable (n = 1140) by June 2022. The initial rise was attributable to the COVID-19 pandemic; further increases were due to changing referral pathways. The majority of A&G requests were returned with advice (77.6%, 66.4% and 54.5% in June 2019, 2020 and 2021, respectively), except in June 2022 where 52.2% were converted to referrals. Separate to quantitative analysis, subjective reporting from triaging dermatologists noted improved primary care referral quality (user descriptions, differential diagnoses suggested and treatment options considered), implying educational benefits for referrers, gained from timely and targeted feedback. This was supported by an increasing conversion-to-referral percentage over the period. Triage of referrals allowed the identification of patients requiring advice prior to clinic review, resulting in improved use of clinics. Subsequently, the percentage of referrals discharged after the first clinical encounter decreased from 70% (June 2019) to 29.9% (June 2020), remaining low by June 2022 (37.9%). Concordantly, RTT performance increased from 60.3% in June 2020 to 88.2% 2 years later. The use of A&G to triage all routine referrals has positively impacted on our department’s health service outcomes, noticeably reducing discharges at first attendance and improving RTT performance. We report on these successful outcomes to highlight to other NHS dermatology teams about efficient methods of teledermatology work in an NHS undergoing ever-increasing demands.