bluuebunny/crossref_metadata_2025_split huggingface dataset:
DS27 Laser hair depilation therapy for pilonidal sinus disease: a 5-year, retrospective experience in a university teaching hospital in the UK, 2017–2023
Authors: Andrew Kashini , Dyson Maya , Lee Pui Chi , Patel Pooja , Applewaite Rona , Thomson Michelle , Nevill Alan M 
Published: June 2024

Abstract
Pilonidal sinus disease (PSD) is a chronic debilitating condition affecting young adults. Laser hair depilation is an established adjunct to surgical treatment for PSD and can lead to reduced rates of recurrence and postsurgical interventions (Harries RL, Alqallaf A, Torkington J, Harding KG. Management of sacrococcygeal pilonidal sinus disease. Int Wound J 2019; 16: 370–8). This study aimed to assess the outcome of laser hair depilation therapy on disease progression in patients with PSD at the Birmingham Skin Centre, Birmingham, UK. We report retrospective data of 97 patients with PSD referred for laser hair depilation therapy. We collected the patient demographics, clinical stage of PSD, laser types utilized, number of laser sessions, and surgical interventions by reviewing electronic medical records. Most patients affected were male, with a male-to-female ratio of 3.5 : 1. The average age of the patients was 22 years. Most patients had mild PSD in this cohort. Of the 51 patients who completed the treatment, most required between eight and nine laser treatment sessions; 32 had completely healed PSD at the end of their treatment. Patients with early disease required fewer laser treatment sessions than patients with advanced disease, even though it was not statistically significant (P &lt; 0.01). Most of the patients treated were referred for laser hair depilation treatment after having surgical interventions. No complications were reported in this cohort. This study shows that laser hair depilation is a safe and cost-effective adjunct to surgical treatments for PSD, and increasing access to this outpatient noninvasive procedure would be of significant benefit to patients with PSD, as we have demonstrated in our centre.
DP16 Nicolau syndrome (embolia cutis medicamentosa) due to glatiramer acetate (Copaxone) injection: a case report
Authors: Mukhtar Sadaf , Rashid Sahrish , Hawari Rand 
Published: June 2024

Abstract
Nicolau syndrome (NS) is a rare cutaneous drug reaction that occurs at the site of an intramuscular drug or intra-articular injection. NS has been reported with the administration of various other drugs such as penicillins {Modzelewska I, Dawidowicz-Szczepanowska A. [Nicolau syndrome following administration of procaine penicillin]. Wiad Lek 1980; 33: 231–3 (in Polish)}, local anaesthetics, corticosteroids (Cherasse A, Kahn MF, Mistrih R et al. Nicolau’s syndrome after local glucocorticoid injection. Joint Bone Spine 2003; 70: 390–2) and nonsteroidal anti-inflammatory drugs. Patients experience extremely severe pain around the injection site of the drug immediately after injection, followed by rapid development of erythema, a livedoid reticular patch or a haemorrhagic patch. It may result in necrosis and ulceration of the skin. We report the case of 50-year-old woman who presented with areas of skin discoloration over her left axilla and left arm after an injection of Copaxone (glatiramer acetate) for her multiple sclerosis. It was painful and swollen. She has a past medical history of multiple sclerosis, epilepsy and an underactive thyroid. She has been on glatiramer acetate injections for multiple sclerosis for more than 3 years but has never had any reaction. Drug history included glatiramer acetate, levothyroxine, pregabalin, udenafil, propranolol, levetiracetam and docusate. There was no known drug allergy. She was seen by an on-call dermatologist. On examination there were bruise-like patches on her left lateral arm and left axilla, with some livedoid pattern. Bloods and medical photographs were taken. Incisional biopsy was done. On review after a few days, the swelling had decreased but the skin discoloration persisted and the skin was tender. Skin bacteriology swab was taken. Blood showed a slightly deranged clotting profile and raised creatinine kinase. Autoimmune screen was negative. Skin biopsy showed necrosis of the squamous epithelium, fibrinoid thrombi in superficial and mid-dermal blood vessels, and occasional eosinophils. This was suggestive of NS. Over time the rash evolved into indurated ulcerated plaques with a necrotic surface. Oral doxycycline 100 mg once daily was started, as a swab showed a heavy growth of Staphylococcus aureus. Glatiramer acetate injection was discontinued. She was treated with AQUACEL (silver-containing) dressing, clobetasol propionate cream for the surrounding skin, and surgical debridement. The skin healed completely within 20 weeks with scarring. NS is an important cause for morbidity and also of mortality in severe cases. There is no specific therapy. Conservative treatment with debridement, pain control and dressings are the mainstays of therapy. This case highlights the need for awareness about this rare condition.
DP22 An unusual presentation of acquired perforating dermatosis
Authors: Murphy Lisa , Hackett Caitriona 
Published: June 2024

Abstract
Granulomatosis with polyangiitis (formerly known as Wegener granulomatosis) is a rare condition that can affect people of all ages and ethnicities. We present the case of a patient who presented with a rash consistent with vasculitis on his fingers and nose, and a number of keratotic papular lesions on his elbows. These lesions were pruritic and were clinically consistent with perforating dermatosis. Biopsy of a lesion on his left elbow showed skin with central dome-shaped epidermal ulceration in the epidermis with abundant cellular debris and collagen fibres. The features were in keeping with a perforating dermatosis. Initially, he was commenced on methylprednisolone, before being switched to rituximab infusions. His rash resolved, and he developed no further new lesions. Perforating dermatoses are characterized by the transepithelial elimination of dermal connective tissue through the epidermis. The acquired form is more common and typically presents in patients with diabetes mellitus and chronic renal disease. The lesions usually present as umbilicated, keratotic papules on the extremities. The histology of acquired perforating dermatoses typically demonstrates epidermal invagination with a keratotic plug consisting of collagen, keratin or elastic fibres. Perforating dermatosis in patients with granulomatosis with polyangiitis is very rare. Treatment for acquired perforating dermatosis is primarily centred on treating the underlying disease. Options include antihistamines, topical corticosteroids and keratolytic agents such as salicylic acid.
PA08 Extensive congenital epidermal skin loss with sparing of the palms, soles and head: strikingly similar appearances in four patients with neonatal herpes simplex infection
Authors: Vaughan Emily , Balboa Pablo Lopez , Martinez Anna , Ravenscroft Jane 
Published: June 2024

Abstract
We present a case series of four preterm neonates from two tertiary centres in the UK. All presented at birth with 90% epidermal skin loss. In all four neonates, there was a strikingly similar presentation, with skin spared on the palms, soles, and areas on either the face or scalp. Three of the neonates tested positive for herpes simplex virus (HSV) type 1 and one tested positive for HSV type 2 on skin swabs taken soon after birth. None of the mothers gave a history of genital HSV infection. In the past, this pattern of skin loss has been attributed to severe congenital erosive and vesicular dermatosis, with a differential diagnosis of aplasia cutis or epidermolysis bullosa. HSV has been recognized in a few cases but there is limited literature available discussing widespread skin loss secondary to HSV infection. In utero HSV is rare in neonates and accounts for 5% of all neonatal herpes infections. Intrauterine HSV has an increased risk of preterm labour and has been reported to occur in asymptomatic mothers with no history of genital herpes. HSV contracted in utero commonly presents with cutaneous lesions in the context of an unwell neonate and carries a high risk of eye involvement, mouth disease and neurological complications such as encephalitis, meningitis and neurodisability. Babies with this suspected diagnosis need urgent skin swabs for viral polymerase chain reaction and bacterial culture. Early treatment with high-dose intravenous antivirals prior to swab results is essential. Full neonatal intensive care support is needed, as well as analgesia, gentle handling and antibiotics. Neonates are best managed in a tertiary neonatal intensive care setting with input from the national epidermolysis bullosa team, due to the extensive nature of the skin loss. Two of our cases healed with severe reticulated scarring and contractures, requiring multiple procedures and extensive physiotherapy. The other two did not survive the neonatal period despite early diagnosis and a multidisciplinary approach. Management of HSV in future pregnancies must be discussed with the obstetric team. This is the first case series describing a characteristic pattern of severe skin loss among neonates with congenital HSV. We recommend early recognition and empirical treatment of HSV, while swabs are awaited.
PA15 Paediatric lupus vulgaris masquerading as an unusual facial lesion: a diagnostic dilemma
Authors: Chandran Ashima R 
Published: June 2024

Abstract
We present a rare case of lupus vulgaris in a 9-year-old boy with an asymptomatic raised lesion on the left cheek, initially posing a diagnostic challenge due to its atypical presentation. Clinical and investigative findings were analysed, including the patient’s medical history, physical examination, routine investigations, Mantoux test, differential diagnoses, histopathological examination and response to treatment. The patient presented with a progressively enlarging, single, well-defined erythematous plaque (1 × 1 cm) on the left cheek over 2 months. Notably, a bacille Calmette–Guérin scar was present, and routine investigations, including chest X-ray, were normal. The Mantoux test yielded a positive result (18 mm). Differential diagnoses considered were borderline tuberculoid Hansen disease, lupus vulgaris, sarcoidosis, and granuloma annulare. Histopathological examination revealed mild flattening of the epidermis with elongated rete ridges, accompanied by numerous epithelioid granulomas in the dermis and epidermal junction, surrounded by inflammatory infiltrate. A 20% acid-fast bacilli (AFB) staining for Mycobacterium tuberculosis was positive. However, sputum smear for AFB was negative. The final diagnosis was lupus vulgaris, a rare form of cutaneous tuberculosis. This case highlights the importance of considering lupus vulgaris in the differential diagnosis of facial lesions, even in paediatric patients. The positive Mantoux test and histopathological findings supported the diagnosis, emphasizing the need for a multidisciplinary approach in challenging cases. Treatment involved a 6-month course of category 1 antitubercular therapy. This case underscores the significance of early diagnosis and prompt initiation of appropriate therapy to prevent complications and ensure a favourable outcome. This report contributes to the limited literature on lupus vulgaris in paediatric patients, emphasizing the necessity of vigilance among dermatologists in recognizing atypical presentations of cutaneous tuberculosis, particularly in regions with a high prevalence of tuberculosis.
PA16 Isotretinoin under the lens
Authors: Long Amy , O’Malley Sean , Quigley Claire , Collins Sinead 
Published: June 2024

Abstract
Isotretinoin has been a widely prescribed medication in the field of dermatology for almost 50 years. It has been heavily scrutinized because of its teratogenicity, association with mood disturbance, and now its potential for sexual dysfunction. Ophthalmic adverse sequelae, although frequent, are the subject of less scrutiny. A 22-year-old woman was referred urgently to dermatology with a 6-month history of severe nodulocystic facial acne and extensive ice pick scarring. She had not responded to a combination retinoid and benzyl peroxide cream and an oral tetracycline antibiotic. She had an intrauterine device for contraception, and her medical history was otherwise unremarkable. Her most recent eye exam was 4 years previously for a mild convergent squint. Low-dose isotretinoin was commenced in conjunction with oral erythromycin. Her dose of isotretinoin was uptitrated until control of her acne was achieved. Six weeks into treatment, a routine ocular exam revealed bilateral early cataracts. Congenital cataracts could be excluded, and no other associated risk factors could be determined. In view of the temporal relationship a potential causal association with isotretinoin was postulated. She remained on isotretinoin after a discussion regarding the risk and benefit was had. She completed a further 4 months of therapy, averaging 0.25 mg kg−1 daily, with full clearance of her acne. She had no progression of the cataracts at a 6-month ophthalmological follow-up. Despite many ocular side-effects being generally reversible and mild, there is potential for significant harm and ocular morbidity to be caused by isotretinoin. Adverse events range from surface evaporative disease and blepharoconjunctivitis more commonly, to reports of rarer events such as cataracts. Data on cataracts in the context of isotretinoin are scant and largely historical. With the added pharmacovigilance accompanying the new UK Medicines and Healthcare products Regulatory Agency’s guidance on isotretinoin, there may be an opportunity to record the impact of the ocular and mucocutaneous adverse events that have been less well studied [Commission in Human Medicines. Report of the Commission on Human Medicines Isotretinoin Implementation Advisory Expert Working Group. Available at: https://www.gov.uk/government/publications/report-of-the-commission-on-human-medicines-isotretinoin-implementation-advisory-expert-working-group (last accessed 19 April 2024)]. Our case serves to remind prescribers of isotretinoin of potential serious ocular toxicity associated with this common drug, and to include ocular symptoms in our checklist of adverse events.
PA18 Audit of direct booking of urgent dermatology slots by the emergency department
Authors: Carter-Hurst Jonathan , Nadeem Muna , Goodyear Helen 
Published: June 2024

Abstract
Children with skin disorders frequently present to emergency departments (EDs) with onward referral to dermatology. Recognizing the urgency of some presentations, and to minimize requests from ED for an immediate dermatology opinion, we created one dedicated ED slot on all consultant dermatology clinics, which was directly bookable by the ED. If the slot was unfilled it could be used for other urgent referrals. This system worked well over many years, but recently clinicians have noted long waits by ED patients. To analyse slot use, we undertook a retrospective audit from 1 April 2022 to 31 March 2023. We identified 219 appointments for 210 individuals. Twelve episodes, none of which were ED referrals, were excluded from analysis due to inadequate or erroneous data. The remaining 207 referrals were from ED (85, 41.1%), general practitioners (92, 44.4%), internal specialties (15, 7.2%), external hospitals (9, 4.3%) or our own department (6, 2.9%). The commonest non-ED referrals were melanocytic naevi (34, 27.9%), infantile haemangiomas (21, 17.2%) and eczema (18, 14.8%). The most frequent ED referrals were eczema flares (29%), infected eczema (15%) and ‘nonspecific rashes’ (12%). The median symptom duration was 4 weeks (range 1 day to several years). Treatment given in ED was considered appropriate in most cases (56%) but could not be assessed in 28% because of ED clinician diagnostic uncertainty. In 11% of cases, ED sought on-call dermatology advice before booking appointments. The median wait from referral to appointment was 2 weeks (range 0–7), with an attendance rate of 84.7%. In 20% of attendances, the problem had already resolved. The audit team’s assessment of referrals was that most were warranted, with further treatment commenced in 74.1% and ongoing clinic follow-up in nearly 75%. In conclusion, our work highlights that these outpatient slots designed for ED use were being utilized for other referrals, resulting in excessive waits by ED patients with urgent needs. This reflects outpatient waiting list pressures including 2-week-wait referrals. We propose to reinforce booking rules to the call centre and to reinstate regular dermatology teaching in ED to optimize urgent first-line management.
BI05 Successful treatment with upadacitinib for severe atopic dermatitis in a patient with primary immunodeficiency (CARD11)
Authors: Iqbal Mishal , O’Driscoll Daniel , Ardern-Jones Michael R 
Published: June 2024

Abstract
A 42-year-old woman with a history of multiple severe allergies, asthma, urticaria, atopic dermatitis and recurrent bacterial and viral infections was diagnosed with CARD11 deficiency (heterozygous missense mutation dominant-negative) through whole-genome sequencing in 2017. Since adolescence, she had been treated with multiple systemic therapies for atopic dermatitis, including systemic corticosteroids, omalizumab, dupilumab and tralokinumab, which were eventually withdrawn due to treatment failure or intolerable adverse effects. On examination she had widespread severe eczema [Eczema Area and Severity Index (EASI) 24, Patient-Oriented Eczema Measure (POEM) 28, Dermatology Life Quality Index (DLQI) 16]. After discussion with immunology colleagues, the patient was offered treatment with upada­citinib 15 mg once daily. At follow-up 8 weeks later, there was a marked improvement in her eczema with complete resolution of itch (EASI 4, POEM 6, DLQI 2). After 5 months, she developed an episode of shingles, which responded to a 7-day course of high-dose oral aciclovir. She was able to restart treatment on alternate-day dosing of upadacitinib 15 mg. Her eczema remains well controlled. The CARD11 gene encodes a scaffold protein required for nuclear factor-κB activation in response to lymphocyte receptor binding. Homozygous null mutations in CARD11 lead to severe combined immune deficiency, while gain-of-function mutations are associated with lymphoproliferative disease. As in our patient, recently described dominant-negative mutations in CARD11 have been shown to be associated with a severe atopic phenotype, multiple allergies and variable predisposition to infection (Ma C, Stinson J, Zhang Y et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet 2017; 49: 1192–201). It is postulated that aberrant CARD11-dependent T-cell receptor signalling results in deficiencies in T-cell proliferation and a T helper (Th)2 bias in immune responses. Upadacitinib is an oral small-molecule Janus kinase (JAK) inhibitor that preferentially binds JAK1, inhibiting multiple cytokines associated with Th2 signalling. Given the reported increase in infectious adverse events compared with placebo in clinical trials, the use of JAK inhibitors in patients with inborn errors of immunity must be approached with great caution. However, in our patient with a severe atopic phenotype, recalcitrant to multiple systemic therapies, targeting the JAK1 pathway has provided a dramatic clinical benefit.
BI17 Impact of an annual multidisciplinary clinic on patient care and experience in cutaneous T-cell lymphoma
Authors: Greenish Huw , Heath Harry , Marsh Rainy , Furtado Michelle , Dunnill Giles , Bailey Claire 
Published: June 2024

Abstract
Cutaneous T-cell lymphomas (CTCLs) are a group of rare conditions with diagnostic and management challenges and reduced patient quality of life (QoL). Optimal management requires haematology, dermatology and referral to a local skin specialist multidisciplinary team (MDT), with further referrals to a regional supranetwork skin MDT for some patients. An annual CTCL clinic day was established to bring the MDT to the patient and address the challenges of CTCL. Objectives included establishing a local database of patients with CTCL including staging, adjusting treatment as appropriate, upskilling local clinicians, educating patients and initiating annual QoL assessments. Currently two annual clinics have taken place with a third planned. Patients with both known and suspected CTCL were invited. The clinics included nurse-led patient education and a 30-min dermatology-led consultation with access to a specialist haematology consultant and regional CTCL expert. On-the-day blood tests and diagnostic biopsies were performed if needed. Patients completed pre- and postclinic questionnaires for feedback, itch visual analogue scale and Dermatology Life Quality Index and mycosis fungoides (MF)-QoL assessments, and clinician feedback was sought. A total of 31 patients attended one (n = 17) or both (n = 14) clinics following an average 28% late-cancellation/no-show rate. Across the two clinics, it was determined that a total of eight patients did not have CTCL. All patients with CTCL were appropriately staged. Of those attending both annual clinics only 1 patient had a stage progression (IA to IB) and the majority had stable or improved QoL (9 of 13, MF-QoL). Four patients had unplanned hospital visits between clinics, all due to symptom or disease progression. Of the 23 patients with CTCL, 10 had their treatment type changed at one or both of the clinics, 3 had the frequency changed, 3 stopped treatment and 7 had no change in treatment. Patient feedback regarding the clinic was positive with 93% rating the outcome of the clinic as excellent or very good, and 97% responding that they would attend a similar clinic in the future. Some patients retained knowledge from the first clinic education session, whereas others did not and these patients benefited from repeat education. Clinician feedback also reported high value. The outcome of the first two annual CTCL MDT clinic days demonstrated the value patients placed on the service and the need to tailor education frequency to individual needs. In summary, the annual clinic efficiently delivers patient-centred management and care, and education to both patients and clinical teams, and ensures close working relationships between departments within the Trust. This project was a joint working partnership between the Trust and Recordati Rare Diseases UK.