bluuebunny/crossref_metadata_2025_split huggingface dataset:
P12 #corticophobia: a review of misinformation related to topical steroids
Authors: Finnegan Paula , Murphy Michelle , O’Connor Cathal 
Published: August 2023

Abstract
Misinformation in healthcare is now at crisis level worldwide, with the internet as the primary source of prevarication. Topical corticosteroids (TCS) are a safe and effective treatment used in multiple conditions in paediatric dermatology. Nonadherence to prescribed TCS can be due to phobia secondary to misinformation, and poor compliance is a common obstacle to disease control. TCS phobia is a complex, multifaceted phenomenon that exploits children with skin disease and obstructs their path to successful treatment. This study aims to examine the content of TCS-related misinformation available online. A formal review of PubMed was performed in June 2022, using the terms ‘topical corticosteroids’ AND ‘misinformation’ OR ‘disinformation’ OR ‘conspiracy theory’, along with an informal Google search using combinations of these terms, and further targeted searches on social media applications including Facebook, Twitter, Instagram and TikTok. The main fears expressed by children and parents regarding TCS included potential adverse effects (skin thinning, stunted growth/development). ‘Topical steroid withdrawal’, ‘red skin syndrome’ or ‘TCS addiction’ is a particularly prevalent myth currently being propagated on social media, with most content suggesting that eczema is due to a ‘leaky gut’ and not skin inflammation. Numerous websites promoting misinformation were frequently endorsed by companies advertising ‘natural’ products as treatment alternatives, including ‘herbal’ remedies which can contain significant quantities of corticosteroids or other potent ingredients. The paediatric dermatology community should be vigilant of the type of TCS-related misinformation online, and actively attempt to counteract it with evidence-based advice.
P15 A rare case of paediatric Cushing disease presenting as acne
Authors: Grounds Katie , Thomas Carla , Hamadeh Rami 
Published: August 2023

Abstract
Cushing disease in children and adolescents is rare. Early detection and treatment are vital to reduce morbidity and mortality. We present the case of a 13-year-old female who was referred to dermatology with an acneiform rash on her face. During the consultation it was made apparent that the patient had noticed changes to her face over the past 6 months in which she described her face becoming swollen and ‘puffy’. She also reported irregular menstruation and hirsutism mainly to her back. Serum baseline tests at the time demonstrated no abnormalities, but further serum cortisol and free urinary cortisol were exceedingly high. Subsequently an MRI pituitary scan demonstrated a 3-mm microadenoma, in keeping with a diagnosis of Cushing disease. She has now been transferred to a tertiary paediatric endocrinology unit. This case highlights the importance of the dermatological manifestations of rare conditions such as this, and that the skin is often the window to many underlying medical conditions.
P17 Pseudomonas infection causing acute painful flexural exacerbation in a child with IFAP syndrome
Authors: Forde Karina , Broderick Conor , Stembridge Natasha , Petrof Gabriela , Burrows Nigel 
Published: August 2023

Abstract
Ichthyosis follicularis alopecia and photophobia (IFAP) syndrome is a rare, X-linked inherited disorder caused by pathogenic mutations in the MBTPS2 gene. Seventy cases have been reported previously. The phenotypic spectrum varies, but IFAP consistently causes noninflammatory follicular keratoses, nonscarring alopecia and progressive corneal scarring. A 7-year-old boy, with IFAP syndrome associated with neurodevelopmental delay, chorioretinal coloboma and poor growth requiring gastrostomy, presented with a 4-week history of worsening flexural erythema and pain. Trials of topical steroids with fucidic acid, nystatin and oral penicillin had proven ineffective. On initial evaluation he had florid painful flexural erythema with surrounding crusting and scale. The Nikolsky sign was negative. He was systemically unwell with fever, dehydration and malaise requiring hospital admission. Laboratory evaluation demonstrated leucocytosis with neutrophilia and peak CRP of 100. He was treated empirically for bacterial superinfection including Staphylococcus scalded skin syndrome with intravenous clindamycin. With no appreciable improvement after 48 h, antimicrobial therapy was extended to include fluconazole and aciclovir. After 5 days, he continued to be febrile and systemically unwell with extensive yellow-brown crusting most marked at the flexural areas, and clindamycin was switched to piperacillin/tazobactam to provide antipseudomonal coverage. Skin swab cultures subsequently confirmed heavy growth of Pseudomonas aeruginosa. Within 48 h there was marked clinical improvement. He was discharged home to complete a course of oral antibiotics. This case highlights the importance of early consideration of Pseudomonas infection as a cause of subacute flexural exacerbations, particularly in those with skin barrier abnormalities, including inherited ichthyoses.
P19 Pemphigus foliaceus in a 13-year-old child
Authors: Bageta Maria L , Mee John , Levine Samantha , Petrof Gabriela , Martinez Anna E 
Published: August 2023

Abstract
Pemphigus foliaceus (PF) is an autoimmune blistering disease caused by autoantibodies against desmoglein 1, which cause acantholysis and intraepithelial blisters. PF classically presents in adults and, excluding the endemic form of PF (fogo salvagem) found in North Africa, Turkey and South America, it rarely occurs in children. We present a previously fit and well 13-year-old girl who was referred with a 2-year history of multiple small blisters on the legs which gradually spread to the trunk and arms. Concomitantly she had severe abdominal pain and alternated constipation with diarrhoea. A skin biopsy suggested a diagnosis of PF. She was commenced on azathioprine which had to be subsequently discontinued due to severe muscle pain and fatigue. She has had a 15-month-course of oral prednisolone which was difficult to wean due to acute flares. A repeat biopsy showed features of pemphigus, direct immunofluorescence showed intercellular deposition of IgG and C3 in the epidermis and ELISA revealed positive autoantibodies against desmoglein 1 (110 U mL–1), in keeping with PF. She was commenced on erythromycin with small improvement and was therefore switched to azithromycin which was discontinued after 5 days due to severe abdominal pain. No abnormalities were seen on a colonoscopy and upper gastrointestinal endoscopy. Despite treatment with erythromycin and topical tacrolimus she continued experiencing acute flares, particularly over her chest and back. Dapsone 50 mg once daily was prescribed and was increased to 75 mg to fully resolve the skin lesions. She is under follow-up and her disease has now remained quiescent for a year.
P23 Stabilization of aggressive disease in NRAS kaposiform lymphangiomatosis with sirolimus
Authors: Ramwani Miteshkumar , O’Neill Claire , Polubothu Satyamaanasa , Solman Lea 
Published: August 2023

Abstract
Kaposiform lymphangiomatosis (KLA) is a rare disorder of lymphatic vasculature characterized by infiltrative and multifocal lymphatic abnormalities. The disease course is often complicated by a severe coagulopathy and frequently involves the central conducting lymphatic vessels leading to large-volume chylous pleural/pericardial effusions and ascites. There is a significant morbidity and mortality with 5-year survival from time of diagnosis estimated to be 50%. The genetic basis of KLA has recently been described as somatic activating mutations of the RAS–MAPK pathway. A 14-month-old girl, previously well, presented with a massive pericardial effusion leading to cardiac tamponade and cardiac arrest, requiring emergency pericardial drainage and extracorporeal membrane oxygenation. The patient had a profound thrombocytopenia not responding to repeat transfusion. MRI of the thorax revealed extensive cystic lesions consistent with diffuse lymphatic disease. Clinical suspicion of KLA was confirmed by mediastinal biopsy revealing characteristic kaposiform spindle-shaped lymphatic endothelial cells. Targeted next-generation sequencing revealed a mutation in NRAS (p.Q61R) in 2% of sequenced reads. Treatment with mTOR inhibitor sirolimus plus vincristine rapidly stabilized her refractory thrombocytopenia and led to a rapid clinical improvement enabling extubation within 72 h. Repeat MRI 2 months later confirmed reduced lymphatic disease. Lymphatic disease remains stable after 18 months of sirolimus monotherapy with no significant adverse effects. KLA is an aggressive mosaic disease of the lymphatic vasculature with high morbidity and mortality. Early diagnosis is key to enabling targeted medical therapies in this cohort. Clinicians should be aware of this differential when presented with high-volume effusions and refractory thrombocytopenia.
P24 Recurrent skin ulcerations as an isolated manifestation of ISG15 deficiency
Authors: Oyedepo Jadesola , Moraitis Elena , Solman Lea 
Published: August 2023

Abstract
Type I interferonopathies are characterized by a very broad phenotypic spectrum; however, some overlapping clinical features are seen across the type I interferonopathies, most particularly brain and skin involvement. We report a female patient presenting at 7 months of age with ulcerations in her groin and axilla. The lesions in her axilla healed; however, she continued having recurrent ulcerations in both sides of her groin and she developed lipoatrophy of the lower abdomen. Skin biopsy revealed deep-seated inflammation with abnormal adipose tissue; no bacteria were isolated. Extensive immunology blood work-up did not reveal any abnormalities, and the inflammatory markers were normal. Because of the extent of the clinical findings and pending results of genetic screening with targeted next-generation sequencing, we commenced methotrexate at 1 year of age (15 mg m–2). Following the initiation of methotrexate, there was marked improvement in the clinical features, with resolution of active skin ulceration. Genetic screening revealed a homozygous stop mutation in ISG15 p.Q16X. A CT scan of her head did not show any calcifications. Methotrexate was stopped at age 3 years. She remains well with no further skin ulcerations, and her development continues to be age appropriate. ISG15 deficiency is a type I interferonopathy, previously described in association with intracranial calcifications and increased susceptibility to mycobacteria infections. However, more recent reports have described skin ulcerations as a main finding in addition to neurological and immunological manifestations. Our patient is not showing any signs of neurological or other immunological manifestations but remains under careful monitoring.
P25 Becker naevus is associated with neurocognitive abnormalities in a substantial proportion of children
Authors: Balboa Pablo Lopez , Knoepfel Nicole , Kinsler Veronica , Polubothu Satyamaanasa 
Published: August 2023

Abstract
Becker naevus and Becker naevus syndrome are mosaic disorders caused in 60% of cases by postzygotic variants in the gene ACTB which encodes β-actin. We observed several patients with Becker naevus and coexistent neurocognitive abnormalities and began to study this potential association. All 51 patients seen in the last 5 years with a differential diagnosis of Becker naevus in electronic and/or photographic records were identified retrospectively. Clinical notes, photographs, radiology and histopathology were reviewed. Twenty-one patients were removed due to a different or doubtful final cutaneous diagnosis. Neurocognitive diagnoses were included only when made by a clinician, all external to the Paediatric Dermatology department. All but three patients had had their neurodevelopment assessed. Nine of the 27 patients assessed (33.3%) had a neurocognitive diagnosis, and all nine were male. Two children had autistic spectrum disorder (ASD), four had attention deficit hyperactivity disorder (ADHD) and two children had both diagnoses. MRI scans had been performed in six of the nine patients, and two had abnormal findings. A very substantial proportion of this cohort of patients with a definite diagnosis of Becker naevus have an independent diagnosis of ASD or ADHD, which in line with all-cause ASD/ADHD appears to be commoner in males. This is a new description. Germline genetic disorders caused by gain- or loss-of-function variants in ACTB are associated with neurocognitive abnormalities. Genotyping is ongoing to examine any association between the neurocognitive phenotype and mosaic ACTB variants in this clinical cohort.
P26 Leukaemia cutis as the first manifestation of acute myeloid leukaemia
Authors: Balboa Pablo Lopez , Bartram Jack , Martinez Anna , Petrof Gabriela 
Published: August 2023

Abstract
Leukaemia is the most frequent malignancy of childhood, accounting for approximately 30% of all malignancies. Acute leukaemia may present in a variety of extramedullary manifestations, the commonest being leukaemia cutis (LC). LC is the infiltration of the epidermis, dermis or subcutis by neoplastic leukocytes with skin lesions preceding the development of leukaemia in the peripheral blood or bone marrow in just 2–3% of cases. A 6-month-old baby girl was reviewed due to multiple skin lesions which appeared on her left forearm 2 months previously, and spread widely, showing over 50 in the following weeks. They were well-circumscribed, nontender, violaceous nodules. She was clinically well and thriving with no lymphadenopathy or organomegaly. Blood tests and abdominal ultrasound were normal. A skin biopsy of a nodule demonstrated an infiltrate of medium-sized atypical cells involving the dermis and subcutis. Immunostaining showed CD45 expression and the Ki67 proliferation index was high, in keeping with a leukaemic infiltration. Cytogenetics performed on the skin biopsy showed KMT2A rearrangement by FISH. Bone marrow aspirate confirmed the diagnosis of acute myeloid leukaemia with monoblastic morphology, and cytogenetics confirmed the rearrangement as a KMT2A–MLLT10 fusion, which is classified as poor cytogenetic risk. Cerebrospinal fluid analysis was negative. It is vital to get a histological diagnosis (with cytogenetics) in a child presenting with violaceus nodular lesions even if the child is well. Importantly, LC can present with a normal full blood count. A bone marrow aspiration is paramount to confirm the diagnosis. Once leukaemia is diagnosed, cytogenetics plays a key role in stratifying treatment intensity.
P27 Dermatology team huddle
Authors: Constantinou Sophie , Angus Janet 
Published: August 2023

Abstract
When I started working in the BRI Dermatology department, I noticed that team morale appeared to have been impacted by the COVID-19 pandemic, and also that the department was not running as efficiently as it could be. To improve departmental efficiency, team-working and staff wellbeing following the COVID-19 pandemic, I surveyed staff to assess their thoughts on departmental efficiency, team-working and a daily team ‘Huddle’. I presented my findings in a departmental meeting, following which a daily team Huddle was initiated. All team members were invited. I created a Huddle proforma which included a checklist troubleshooting issues likely to arise in the day, a moment for a wellbeing ‘check-in’ and a celebration of staff achievement. The Huddle team leader rotated daily. After 6 months, I re-surveyed staff: 92% strongly agreed/agreed that patient care was delivered efficiently (60% pre-Huddle, P = 0.01); 96% of staff strongly agreed/agreed that the team worked well together (71% pre-Huddle, P = 0.03); 62% strongly agreed/agreed that the department was running smoothly/efficiently (33% pre-Huddle, P = 0.08). Staff strongly agreed that the Huddle had improved their wellbeing. Nonclinicians felt more confident to approach the on-call Registrar and Consultant. Respondents observed nonclinical staff were less likely to attend. The Huddle allowed staff to share information/concerns. Rotating the Huddle lead helped break down hierarchical barriers. Celebrating achievements boosted team morale and helped members feel valued. Recommendations include encouraging administrative/reception staff to attend and to set up virtual access for staff who work from home.
P29 The use of adjunct oral methotrexate as primary prevention for keloid scarring following syndactyly release surgery
Authors: Sprenger Cathryn , Fleming Andrew , Ferguson Leila , Abdul-Wahab Alya 
Published: August 2023

Abstract
A 12-month-old Asian female underwent syndactyly release surgery with advancement flap closure of the first web space of the right hand. The procedure was complicated by enlarging keloids over the surgical site and dactylitis, a rare complication with only a few previously reported cases [Muzaffar AR, Rafols F, Masson J et al. Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method. J Hand Surg Am 2004; 29: 201–8. https://doi.org/10.1016/j.jhsa.2003.10.017]. Initial treatment of the keloid scarring with intralesional triamcinolone under general anaesthetic was unsuccessful. Subsequently, we elected to surgically excise the keloids closing with a full-thickness skin graft from the groin, with adjunct oral methotrexate (0.4 mg kg–1 weekly) for 9 months post-surgery. The use of oral methotrexate for this indication is rarely reported: one series included two cases of successful keloid suppression with 4 years of follow-up [Muzaffar et al.] and another series of four patients with successful keloid suppression after surgery for syndactyly with dactylitis [Tolerton SK, Tonkin MA. Keloid formation after syndactyly release in patients with associated macrodactyly: management with methotrexate therapy. J Hand Surg Eur 2011; 36: 490–7]. Low-dose methotrexate exerts anti-inflammatory effects by stimulating adenosine A2 receptors and increasing adenosine release at sites of inflammation, such as surgical sites [Muzaffar et al.]. In our patient, methotrexate was well-tolerated, keloid recurrence and dactylitis were avoided, and range of movement and functioning of the digits was maintained. Keloid formation after syndactyly release poses a complex management challenge and we propose methotrexate should be considered as an adjunct to reduce recurrence risk.
P30 Blisters in a newborn: all that glitters is not gold
Authors: Balboa Pablo Lopez , Martinez Anna , Petrof Gabriela 
Published: August 2023

Abstract
Mastocytosis is a rare and clinically heterogeneous disease characterized by abnormal accumulation of mast cells in various tissues. There are three major types of cutaneous mastocytosis (CM): diffuse cutaneous mastocytosis (DCM), urticaria pigmentosa and solitary mastocytoma, which is the most common form before the age of 3 months: 90% of CM cases present before 2 years of age, and congenital mastocytosis has been described in 23% of those. Solitary mastocytoma has been associated with a mutation of the KIT gene. A male infant was born at 39 weeks, with a large, indurated, blistering, ulcerated plaque containing yellow serous fluid affecting half his right calf. His nails and oral mucosa were normal. Our centre was contacted on suspected diagnosis of inherited epidermolysis bullosa (EB). There was no family history of EB, and the parents were not related. Initial testing showed a PCR positive for HSV type 1 and treatment with aciclovir and cefotaxime was initiated. There was no improvement after 2 weeks of treatment. Viral and bacterial skin swab were negative. A skin biopsy and ultrasound were performed showing extensive superficial hypoechoic lesion and reactive popliteal lymph nodes and the biopsy confirmed the diagnosis of mastocytoma. Bloods including tryptase level and abdominal ultrasound were normal. The lesion healed within 4 weeks with dressings and topical steroids. This case of a single isolated congenital mastocytoma shows the broad differential diagnoses that must be considered in the evaluation of bullous lesions in a newborn. It is key to biopsy early and always exclude ­infection.
P31 Eyeing up: dupilumab-associated ocular surface disease in children with eczema in a tertiary paediatric hospital in London
Authors: Rampersad Anjali , Gholam Karolina , Solman Lea , Cartledge Natalia , Gore Sri , Petrof Gabriela 
Published: August 2023

Abstract
Dupilumab blocks interleukin (IL)-4 and IL-13 and has demonstrated significant clinical benefit in eczema. Dupilumab-associated ocular-surface disease (DAOSD) has been described in adults but literature on the paediatric population is scarce. We conducted a retrospective review of electronic patient records of patients receiving dupilumab for eczema from April 2019 to July 2022. Outcome measures included incidence of DAOSD, patient/drug-related risk factors, ocular signs and symptoms, time to develop DAOSD, severity and treatments. Forty-six patients (median age 12 years, range 9–14) were identified; of these 12 (26%) developed DAOSD. Only one patient (8.3%) had pre-existing eye disease. The median time to DAOSD development was 3 (1–9) months. All patients were referred to ophthalmology, nine have been reviewed and three are awaiting appointments. All but one was symptomatic with ocular irritation (92%). In the nine patients reviewed by ophthalmology, ocular signs included bilateral bulbar conjunctival injection (n = 9, 100%), follicles (limbal or forniceal, n = 4, 44%), diffuse tarsal–conjunctival thickening (n = 3, 33%), cicatrization (n = 2, 22%). Four patients (44%) had moderate eye findings with peripheral corneal opacification; the symptoms were not always proportionate to the signs. The remaining five patients had mild ocular findings. Topical treatment for DAOSD included protopic to eyelid (n = 1), ciclosporin (n = 2), steroid (n = 4), lubrication (n = 5) and chloramphenicol (n = 2). No patients stopped treatment because of DAOSD. DAOSD in this cohort was higher than that reported in RCTs with similar timeframe to DAOSD development. Almost half of our patient cohort had moderate DAOSD but were only mildly symptomatic. No DAOSD predictive factors were identified.
P32 ‘Skin fade’ haircut: an independent risk factor for tinea capitis?
Authors: Ananthan Lokapriya , Hamid Iman , Goodwin Richard 
Published: August 2023

Abstract
Tinea capitis is a highly contagious infection, with peak incidence at 3–9 years; transmission occurs between infected persons or via contaminated surfaces. We examine three different cases, all presented to our department this summer. Each gave a synchronous history of a friend or family member that contracted tinea capitis from the same ‘Turkish barbershop’ visit. We compare similar clinical features and timeframes. Two brothers aged 12 and 9 years, presented with multiple inflamed scaly plaques of alopecia on the occipital scalp. An 8-year-old boy presented with a 3-month history of tinea capitis infection affecting his occipital and temporal scalp. A 9-year-old boy presented with a 2-month history of inflammatory scaling scalp alopecia, spreading to involve his face and neck. All three groups attended different schools, different barbershops and had received a ‘skin fade’ haircut a few weeks prior to developing symptoms. Mycology confirmed Trichophyton tonsurans. ‘Skin fade’ is a type of haircut that has a graded hair length, starting at top of the head and gradually getting shorter towards the neckline. This is produced by using clippers and often cut-throat razors. The technique was introduced in 1930s. Its popularity has varied since and has enjoyed another resurgence recently in South Wales. T. tonsurans is well recognized as an important cause of inflammatory scarring alopecia in South Wales and barbers represent an important source of cross-contamination if hygiene measures are not followed carefully. These consecutive cases suggest that ‘skin fade’ haircuts represent a risk factor for the spread of tinea capitis.