bluuebunny/crossref_metadata_2025 huggingface dataset:
Effectiveness in storing and reducing floods of the red river upstream reservoirs under the incident of Lienmac dyke
Authors: Nguyen Dang Giap , Dao Cong-Binh , Mai Viet-Chinh
Published: August 2023

The Red river and Thai Binh river’s dyke system includes 56 dikes classified from grade III to special grade with a total length of 2.207,75km which 37.709km of special grade, 553.70km of grade I, 502,43km of grade II and grade III. At the present, on the Red River and Thai Binh River systems, there are 230 existing weak locations, which have not been completely reinforced yet. It might cause unsafety situations of large flood flush and high water levels of rivers for a long time. Therefore, studying the solutions to support the response under unsafety situations of the dike system is a significant meaning topic. The present paper aims to evaluate the effectiveness of solutions using reservoirs at the Red river upstream in order to store and reduce floods in downstream. This also supports the effort to respond the urgent situations upstream such as huge floods, dyke failures in downstream and dyke failure at Lien Mac. In the scope of this paper, one and two-dimensional hydraulic simulation method was utilized, which describes the scenarios to regulate the upstream reservoir of the Red River and hydraulic calculation of the downstream river network. Then, the effectiveness of flood reduction in each scenario can be estimated. Simulation results show that depending on the calculation scenarios, the capacity of reservoirs can be 5.553 million m3 to cut and reduce flood for downstream. The flooded area might be decreased by 47.528 ha in case using a part of the capacity of the construction. The time when the reservoirs completely close the floodgates and do not discharge the flood into downstream is from 27 to 30 hours, this is an important time for the Lien Mac dike to be completely sealed within 24 hours. The time when the reservoirs completely close the floodgates and do not discharge the flood into downstream is from 27 to 30 hours, this is an important time for the Lien Mac dike to be completely closed within 24 hours.
A study on using nano calcite as the accelerated agent in microbially induced calcium carbonate precipitation for soil-sand bio-cementation
Authors: Huynh Nguyen Ngoc Tri , Huyen Nguyen Pham Huong , Duc Nguyen Anh , Thien Nguyen Thanh , Truong Ho Van , Son Nguyen Khanh
Published: August 2023

Bio-cementation through bacterial mineralization can be considered an “eco-friendly” solution for soft or loose sandy soils, particularly in ground slopes and high rainfall zones, to achieve sustainable development goals. Using urelytical bacteria with the ability to decompose urea for calcium carbonate precipitation can be selected as the primary agent for the bio-cementation process. This study clarifies the effects of adding nano calcite as nucleation sites for enhancing the bio-cementation with Vietnam-isolated bacteria. Both microstructure of the precipitation and MICP capacity were studied. Microscopic, SEM/EDS, and X-ray diffraction data were used to characterize and identify the mineral compositions. Also, a simulated rainfall model and wind flow were set up to evaluate the erosion resistance of sand samples.
Finite element analysis of compaction load to investigate the stress-deformation behavior of soil geosynthetic composite mass: A case study
Authors: Phan Truc , Gui Meen-Wah , Pham Thang
Published: August 2023

When building Soil Geosynthetic Composite (SGC) walls, fill compaction is normally carried out by operating a compactor in a general direction parallel to the wall face. In other words, a moving point or area load is often used to apply a compaction load on a newly installed soil lift. Pham (2009) and Wu and Pham (2010) demonstrated that the compaction-induced stress (CIS) caused by multiple passes of a compactor moving toward or away from a section can be calculated by taking into account the compaction load applied directly above the section under consideration using a simplified stress path proposed by Duncan and Seed (1986). Additionally, by simulating the compaction, the CIS due to fill compaction may be correctly assessed. The CIS resulting from fill compaction can also be accurately assessed by simulating the compaction load, such as by applying a distribution load on top of each backfill layer or a distribution load at the top and bottom of each soil layer, or by applying various widths of strip load to the top of each backfill layer. The objective of this study was to validate the numerical simulation of the compaction load to stress deformation behavior of SGC mass under operating stress conditions. In order to conduct the numerical analysis, data from both a full-scale instrumented SGC mass based on large-scale soil geosynthetic composite (SGC) experiments and a 6 m-high SGC (Pham, 2009) were employed. This study will examine a few SGC behavior parameters, including reinforcement strains, lateral displacements, and reinforcement strains. The objective of the FE modeling is to demonstrate the effect, emphasize the significance of the compaction conditions to the stress-deformation behavior of SGC mass, and validate the findings from the field-scale experiments and proposed model by Pham (2009) and Wu and Pham (2010).
Simulation of shallow landslides induced by typhoon in July 2018 in Gogoshima, Ehime Prefecture, Japan based on a simple model
Authors: Nguyen T V , Ozaki T , Wakai A , Kimura T , Sato G , Kitamura N
Published: August 2023

Every year, many typhoons make landfall in Japan causing disasters on mountain slopes across the country. Rainfall induced landslides in Japan mostly occur at shallow depths. Developing simple models of rainfall-induced landslides provides a practical alternative to finite element methods in large-scale landslide modelling and prediction. Therefore, authors previously developed a simple method to calculate the advance of the wetting front into fine sand slopes subjected rainfall. However, during intense rainfall, the excess rainfall that cannot be absorbed into the soil will generate runoff on the slope surface, which has not been included in the previous model. Thus, this study integrated the model with a surface water modeling module to simulate the disasters more comprehensively. The surface water is controlled by 2D shallow water equations and the digital elevation model depression removal process. The combined model is able to provide the maps of the wetting front, surface water depth, and factor of safety of slope during rainstorms. The newly integrated model was used to simulate rainfall-induced disasters in the Gogoshima Island during the July 2018 typhoon. The simulation results disclosed that both moving of the wetting front and surface water flows contributed to shallow landslides along catchments in this island.
An energy-sensitive interfacial-superconductor photodetector
Authors: Wang Xiaohan , Chen Qi , Liu Ruxin , Wang Hao , Zhang Xu , Ma Liang , Guan Yanqiu , Zhang Biao , Li Haochen , Guo Shuya , Yang Zhuolin , Yu Shun-Li , Wang Xuefeng , Tu Xuecou , Jia Xiaoqing , Zhao Qingyuan , Chen Jian , Kang Lin , Zhang Labao , Wu Peiheng
Published: August 2023

The investigation of photon response in the superconducting state of interfacial superconductors holds both fundamental and practical significance, yet it remains largely unexplored. Here, we report an energy-sensitive photodetector utilizing a microstrip patterned on an interfacial superconductor (LaAlO3/KTaO3), achieving photon response spanning from visible to near-infrared wavelengths. Remarkably, the photon response pulse amplitude at the same wavelength is linearly related to the incident light power, showing a unique detection capability that is different from the conventional superconducting single-photon detectors. Our results suggest that the energy-sensitive characteristic arises from the Kondo effect observed in the two-dimensional electron gases of the interfacial superconductor, wherein incident photons alter the normal resistance. This study broadens the potential applications of interface superconductors and presents a versatile approach for the advancement of energy-sensitive photodetection technologies.
Deep-learning-based image segmentation for image-based computational hemodynamic analysis of abdominal aortic aneurysms: a comparison study
Authors: Lyu Zonghan , King Kristin , Rezaeitaleshmahalleh Mostafa , Pienta Drew , Mu Nan , Zhao Chen , Zhou Weihua , Jiang Jingfeng
Published: August 2023

Computational hemodynamics is increasingly being used to quantify hemodynamic characteristics in and around abdominal aortic aneurysms (AAA) in a patient-specific fashion. However, the time-consuming manual annotation hinders the clinical translation of computational hemodynamic analysis. Thus, we investigate the feasibility of using deep-learning-based image segmentation methods to reduce the time required for manual segmentation. Two of the latest deep-learning-based image segmentation methods, ARU-Net and CACU-Net, were used to test the feasibility of automated computer model creation for computational hemodynamic analysis. Morphological features and hemodynamic metrics of 30 computed tomography angiography (CTA) scans were compared between pre-dictions and manual models. The DICE score for both networks was 0.916, and the correlation value was above 0.95, indicating their ability to generate models comparable to human segmentation. The Bland-Altman analysis shows a good agreement between deep learning and manual segmentation results. Compared with manual (computational hemodynamics) model recreation, the time for automated computer model generation was significantly reduced (from ∼2 h to ∼10 min). Automated image segmentation can significantly reduce time expenses on the recreation of patient-specific AAA models. Moreover, our study showed that both CACU-Net and ARU-Net could accomplish AAA segmentation, and CACU-Net outperformed ARU-Net in terms of accuracy and time-saving.
Transboundary effects from idealized regional geoengineering
Authors: MacMartin Douglas G , Kravitz Ben , Goddard Paul B
Published: August 2023

Regional geoengineering, by reflecting sunlight over a very limited spatial domain, might be considered as a means to target specific regional impacts of climate change. One of the obvious concerns raised by such approaches is the extent to which the resulting effects would be detectable well beyond the targeted region (e.g. in neighbouring countries). A few studies have explored this question for targeted regions that are still comparatively large. We consider idealized simulations with increased ocean albedo over relatively small domains; the Gulf of Mexico (0.23% of Earth's surface) and over the Australian Great Barrier Reef (0.07%), both with negligible global radiative forcing. Applied over these very small domains, the only statistically significant non-local changes we find are some limited reduction on summer precipitation in Florida in the Gulf of Mexico case (adjacent to the targeted region). The lack of transboundary effects suggests that governance needs for such targeted interventions are quite distinct from those for more global sunlight reflection.
VAPEX: an interactive web server for the deep exploration of natural virus and phage genomes
Authors: Hepp Benjamin , Lorieux Florence , Degaugue Augustin , Oberto Jacques
Published: August 2023

Motivation

Studying the genetic makeup of viruses and phages through genome analysis is crucial for comprehending their function in causing diseases, progressing medicine, tracing their evolutionary history, monitoring the environment, and creating innovative biotechnologies. However, accessing the necessary data can be challenging due to a lack of dedicated comparative genomic tools and viral and phage databases, which are often outdated. Moreover, many wet bench experimentalists may not have the computational proficiency required to manipulate large amounts of genomic data.

Results

We have developed VAPEX (Virus And Phage EXplorer), a web server which is supported by a database and features a user-friendly web interface. This tool enables users to easily perform various genomic analysis queries on all natural viruses and phages that have been fully sequenced and are listed in the NCBI compendium. VAPEX therefore excels in producing visual depictions of fully resolved synteny maps, which is one of its key strengths. VAPEX has the ability to exhibit a vast array of orthologous gene classes simultaneously through the use of symbolic representation. Additionally, VAPEX can fully analyze user-submitted viral and phage genomes, including those that have not yet been annotated.

Availability and implementation

VAPEX can be accessed from all current web browsers such as Chrome, Firefox, Edge, Safari, and Opera. VAPEX is freely accessible at https://archaea.i2bc.paris-saclay.fr/vapex/.
O02 A case for diagnosis: ectodermal dysplasia and severe myelodysplasia
Authors: O’Connor Cathal , Bourke John
Published: August 2023

A 13-year-old girl was referred to us by our paediatric colleagues due to vulval dermatitis. She had a history of congenital hypotrichosis, microcephaly, abnormal dentition, dyshidrosis manifest as recurrent febrile seizures in infancy, recurrent infections, neutropaenia and macrocytosis. Her father and younger brother have a similarly striking phenotype, with complete absence of scalp and body hair, abnormal teeth, abnormal sweating, but normal nails. In addition, the father has required a stem cell transplant for myelodysplastic syndrome. None of the family have keratoderma, cleft palate, ectrodactyly or cardiomyopathy. DNA from our index patient was sent to Cardiff for the ectodermal dysplasia (ED) plus 70 gene panel for next-generation sequencing, but no mutation was found. Our paediatric haematology colleagues sequentially arranged dyskeratosis congenita panel, myeloid panel, and whole-exome sequencing for the younger brother, which did not identify a causative mutation. Unusually, all three were found to have mosaic trisomy 18. The transmission of trisomy 18 from parent to child as a mosaic trait in both generations is extremely unusual, and mosaic trisomy 18 has not been previously reported to cause ED. We would appreciate any input on a genetic diagnosis for this family with a distinctive phenotype consistent with hypohidrotic ED associated with myelodysplasia, with extensive genetic testing revealing a potentially spurious or coincidental mosaic trisomy 18 in all three affected family members.
O04 Segmental congenital haemangioma: a novel subtype of a rare vascular tumour
Authors: Oyedepo Jadesola , Glover Mary , O’Neill Claire , Polubothu Satyamaanasa , Solman Lea
Published: August 2023

Congenital haemangiomas (CH) are rare vascular tumours present at birth. These high-flow vascular lesions can lead to significant morbidity secondary to high-output cardiac failure (HOCF) and Kasabach–Merritt phenomenon (KMP). They are classically round/oval lesions and present anywhere on the body. The majority involute spontaneously in the first 2 years of life. We describe three patients who presented with an unusual segmental pattern CH of the head/scalp: the first with a segmental CH of the left forehead, extending over the left eye with associated ipsilateral heterochromia and anisocoria; the second with a segmental ulcerated CH of the right scalp – catastrophic haemorrhage from the CH sadly resulted in death at age 6 weeks; the third with a left forehead segmental CH. None of the CH in this series developed HOCF or KMP. All lesions were consistent with CH on sonography and histology where available. Patients 1 and 3 exhibited spontaneous involution in the first 2 years of life. Segmental CH have been reported once before in a series of three patients, although involving the arm/trunk rather than the head. Two of the three patients developed KMP/HOCF. The genetic basis in this cohort was identical to that of classic nonsegmental CH, activating somatic mutations in GNAQ/11. The striking segmental pattern in our cohort is likely attributable to the timing of the somatic hit during development. Identification of this pattern in CH gives important insights into vascular tumorigenesis. Further cohort studies are needed to determine if this group has differing clinical outcomes from classical CH.
P03 Utility of the infantile haemangioma referral score in optimizing referrals to a specialist centre
Authors: Harrington Robert , Leahy Marion , Byrne Berbie , Murphy Annette
Published: August 2023

The Infantile Haemangioma Referral Score (IHReS) is a validated, decision-making tool designed to aid physicians in appropriate and timely referral of patients with infantile haemangiomas (IH) to specialist centres. Previous studies have assessed its usefulness in identifying patients who require referral; however, none have analysed its utility in identifying those who do not. We sought to assess the use of the IHReS score by GPs and paediatricians and to correlate the patients’ score with outcomes through retrospective, cross-sectional analysis of all new IH referrals to a dedicated IH clinic over 6 months. The IHReS was retrospectively applied using information from referral letters and dermatology clinic letters. Data on demographics, wait time and outcomes were analysed. Forty-four patients were identified (females, n = 23; males, n = 21). The mean age at referral was 30 (SD 48) weeks. Only three (7%) referrals had recorded the patient's IHReS. Overall, 17 (39%) patients did not satisfy criteria for referral when the IHReS was applied retrospectively. Of these, 10 (59%) were discharged on the first visit, 6 (35%) were offered follow-up and one did not attend. No patients in this group received propranolol. Of the 27 (61%) patients who met the IHReS criteria 12 (44%) required propranolol, 11 (41%) were monitored for potential treatment, and 4 (15%) were discharged. The IHReS is a useful tool for identifying patients with IH who do not require referral to a specialist centre. It is underutilized by GPs and paediatricians and its use could reduce the number of inappropriate referrals to dermatology.
P05 Biologics combined with conventional systemic agents for the treatment of children with severe psoriasis: real-life data from the BiPe cohorts
Authors: Mahé Emmanuel , Hadj-Rabia Smaïl , Mazereeuw-Hautier Juliette , Mallet Stéphanie , Phan Alice , Severino-Freire Maëlle , Boralevi Franck , Aubert Hélène , Barthelemy Hugue , Girard Céline , Martin Ludovic , Barbarot Sébastien , di Lernia Vito
Published: August 2023

Combined therapies, defined as treatment modalities involving combinations of two or more drugs, are used with three main aims: to increase the efficacy of each drug; to reduce the toxicity of each drug; and, in some cases, to reduce costs by reducing the required dosages of each treatment. We explored the use of combinations of conventional systemic therapies and biologics in children with psoriasis in daily practice from the 170 children in the Franco–Italian BiPe cohorts to evaluate the use, efficacy and safety of combined conventional systemic–biologic therapies. In total, 33 children (19.4%) from 13 dermatology centres received 48 combined conventional systemic–biologic therapies (cumulative duration 43.6 years), including three triple combination therapies (acitretin–methotrexate, with a TNF-α inhibitor). Fourteen different combinations were used, most frequently etanercept–acitretin (n = 10), adalimumab–acitretin (n = 7), adalimumab–methotrexate (n = 5) and ustekinumab–methotrexate (n = 5). The combined therapies were started at biologic initiation in 41 cases (85.4%), and after a period of biologic monotherapy in the remaining seven cases. Mean PGA and PASI scores decreased between baseline and M3 with all the combinations used. Four serious adverse events were reported, all with favourable outcomes. Combined therapies have been used frequently in the treatment of childhood psoriasis, in a range of clinical situations and in variable drug combinations, without significant toxicity. Although the use of these combined therapies needs to be clarified in future management guidelines, these combined therapies should be considered for the treatment of children with severe psoriasis, psoriatic arthritis and recalcitrant ­disease.
P08 Linear IgA bullous dermatosis: treatment challenge
Authors: Bulic Suzana Ozanic , Gagro Alenka , Pustisek Nives , Ulamec Monika
Published: August 2023

Linear IgA bullous dermatosis (LABD) is a rare idiopathic or drug-induced autoimmune blistering disease characterized by widespread annular blisters caused by IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and mucosae. Linear deposits of IgA at the dermoepidermal junction are a dominant diagnostic feature. Dapsone is the most commonly used systemic treatment with complete remission achieved in most patients. A 15-month-old boy presented with widespread annular blisters, erosions and haemorrhagic crusts on the face, scalp, torso, extremities and genital skin. An episode of acute bronchitis preceded the skin lesions. The patient was otherwise healthy. A skin biopsy of a lesion showed subepidermal blistering with neutrophils and eosinophils in the superficial dermis. Direct immunofluorescence revealed linear IgA and discrete linear IgG deposits along the BMZ. Treatment with oral prednisone 1–2 mg kg–1 daily and dapsone 1–2 mg kg–1 daily resulted in modest control of LABD and prompted introducing concomitant medications in the following sequence, IVIG, methotrexate 10 mg weekly for 6 months, and ciclosporin 5 mg kg–1 daily over 4 months, all with moderate disease control. Prednisone was stopped after 2 years and the LABD cleared with dapsone 2 mg kg–1 daily. The attempt of tapering the dapsone resulted in a flare. The treatment of LABD is based on case reports and varies with the degree of involvement and identification of inciting factors. The severe, treatment-resistant LABD in our patient, managed by the multidisciplinary team and shared care with the parents, resulted in a good and safe treatment outcome.
P10 Think zinc: nutritional deficiency in a breastfed infant associated with antenatal proton-pump inhibitor exposure
Authors: Porter Emma , Molloy Oonagh , Murphy Michelle , O’Connor Cathal
Published: August 2023

A 5-month-old infant presented with a 3-month history of a dramatic periorofacial and acral dermatitis associated with recurrent infections, increasing lethargy and poor feeding. He was born at full term, breastfed exclusively, and had no family history of skin disease. Serum alkaline phosphatase was 41 (range 82–383) and zinc levels were undetectably low (< 3 mg mol–1; normal 10–25). Maternal breastmilk zinc levels were low (3.15, control mean 12.7), and maternal serum zinc was normal. A rapid improvement was noted within days of zinc sulfate supplementation. Zinc supplementation was stopped after 3 months, with normal follow-up zinc levels. The mother had taken omeprazole from 30 weeks’ gestation to birth. In her previous pregnancy there was no proton-pump inhibitor (PPI) ingestion, and no manifestation of zinc deficiency in the older sibling, who had also been breastfed exclusively. Maternal genetic testing for defects in SLC30A2, a zinc transporter in mammary tissue, was negative. Acrodermatitis enteropathica involves recessive mutations in the SLC39A4 gene, and secondary transient infantile zinc deficiency can be due to prematurity, low zinc intake, or malabsorptive processes such as cystic fibrosis. It is rare in breastfed infants due to enhanced bioavailability of zinc. PPIs can decrease serum zinc due to intestinal chelation, although little is known regarding their effect on transplacental or transmammary zinc transmission. To our knowledge this is the first report of zinc deficiency in a breastfed infant associated with maternal PPI use, potentially due to diminished transmammary and/or transplacental zinc transmission.
P12 #corticophobia: a review of misinformation related to topical steroids
Authors: Finnegan Paula , Murphy Michelle , O’Connor Cathal
Published: August 2023

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

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

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

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

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

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

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

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

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

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

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

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

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.