British Society for Paediatric and Adolescent Dermatology assessment and support of mental health in children and young people with skin conditions: a multidisciplinary expert consensus statement and recommendations.

BACKGROUND: Psychological and mental health difficulties are common in children and young people (CYP) living with skin conditions and can have a profound impact on wellbeing. There is limited guidance on how best to assess and support the mental health of this population, who are at risk of poor health outcomes. OBJECTIVES: To provide consensus-based recommendations on the assessment and monitoring of and support for mental health difficulties in CYP with skin conditions (affecting the skin, hair and nails); to address practical clinical implementation questions relating to consensus guidance; and to provide audit and research recommendations. METHODS: This set of recommendations was developed with reference to the AGREE II instrument. A systematic review and literature appraisal was carried out. A multidisciplinary consensus group was convened, with two virtual panel meetings held: an initial meeting to discuss the scope of the study, to review the current evidence and to identify areas for development; and a second meeting to agree on the content and wording of the recommendations. Recommendations were then circulated to stakeholders, following which amendments were made and agreed by email. RESULTS: The expert panel achieved consensus on 11 recommendations for healthcare workers managing CYP with skin conditions. A new patient-completed history-taking aid ('You and Your Skin') was developed and is being piloted. CONCLUSIONS: The recommendations focus on improved mental health assessments for CYP presenting with a skin condition, with clinical guidance and suggested screening measures included. Information on accessing psychological support for CYP, when required, is given, and recommendations for staff training in mental health and neurodiversity provided. Embedding a psychosocial approach within services treating CYP with skin disease should ensure that CYP with psychological needs are able to be identified, listened to, supported and treated. This is likely to improve health outcomes.

Paediatric dermatology teleconsultations: a survey of healthcare professionals in the UK.

The COVID-19 pandemic catapulted dermatology services into a digital era, with the rapid introduction of teleconsultations. The UK National Health Service operational planning guidance recommends ≥ 25% of consultations are delivered remotely. There is a lack of data regarding the acceptability and effectiveness of paediatric dermatology teleconsultations. We surveyed UK healthcare professionals (HCPs) to explore their experiences of teleconsultations in paediatric dermatology, with a focus on follow-up consultations for paediatric eczema (PE), to inform a future clinical trial. There were 119 responses. Pre-pandemic, 37% provided some form of teleconsultation service, rising to 92% post-pandemic. In total, 41% (n = 49) now carry out > 25% of consultations remotely. We found 55% felt teleconsultations were less effective than face-to-face ones for PE follow-up. Eighty HCPs offered teleconsultations for PE. Among the HPCs who offered teleconsultations for PE, the most effective format for follow-up consultations was felt to be telephone with photographs (52/80, 65%). Our results demonstrate varying opinion on the effectiveness and optimal format of paediatric teleconsultations, supporting the need for further research.

Patch testing with alkyl glucosides: Concomitant reactions are common but not ubiquitous.

BACKGROUND: Alkyl glucosides contitute a family of mild surfactants that are increasingly being used in a wide range of cosmetics and household products. Contact allergy to alkyl glucosides may be more frequent than previously suspected, especially in atopic patients. OBJECTIVES: To investigate the frequency of contact allergy to alkyl glucosides, and to identify concomitant reactivity. METHOD: We retrospectively reviewed all cases of suspected allergic contact dermatitis (ACD) in which patients were patch tested with either a cosmetic series that includes five alkyl glucosides (decyl glucoside, lauryl glucoside, coco glucoside, cetearyl glucoside, and caprylyl/capryl glucoside) or a specific alkyl glucoside series from November 2013 to April 2017 in two UK centres. RESULTS: A total of 5775 patients were patch tested across the two centres. Twenty-nine (1.04%) of the 2796 patients tested with the cosmetic/alkyl glucoside series had a positive patch test reaction to at least one of the alkyl glucosides. Twenty-three (79.3%) patients were sensitized to multiple alkyl glucosides; 21 patients (72.4%) were female. The mean age was 43.5 years. Twelve patients (41.4%) had a background of atopic dermatitis. CONCLUSIONS: The prevalence of alkyl glucoside-induced ACD is relatively high, and there are frequent concomitant reactions between different alkyl glucosides. We recommend the inclusion of alkyl glucosides in all cosmetic series.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%). Lower levels of ionized calcium even within the normal range were significantly associated with seizures, and with specific antiepileptics despite normal vitamin D levels. Successive measurements documented substantial intrapersonal fluctuation in indices over time, and DEXA scans were normal in patients with hypocalcemia. Neurohistology from epilepsy surgery in five patients revealed not only intravascular, but perivascular and intraparenchymal mineral deposition and intraparenchymal microvascular disease in addition to previously reported findings. Neuroradiology review clearly demonstrated progressive calcium deposition in individuals over time. These findings and those of the adjoining paper suggest that calcium deposition in the brain of patients with GNAQ/GNA11 mosaicism may not be a nonspecific sign of damage as was previously thought, but may instead reflect the central postnatal pathological process in this disease spectrum.

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

ISG15 deficiency is a rare disease caused by autosomal recessive variants in the ISG15 gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/ß signalling. Due to this dual role, ISG15 deficiency can present with various clinical phenotypes, ranging from susceptibility to mycobacterial infection to autoinflammation characterised by necrotising skin lesions, intracerebral calcification, and pulmonary involvement. In this report, we describe novel variants found in two different families that result in complete ISG15 deficiency and severe skin ulceration. Whole exome sequencing identified a heterozygous missense p.Q16X ISG15 variant and a heterozygous multigene 1p36.33 deletion in the proband from the first family. In the second family, a homozygous total ISG15 gene deletion was detected in two siblings. We also conducted further analysis, including characterisation of cytokine dysregulation, interferon-stimulated gene expression, and p-STAT1 activation in lymphocytes and lesional tissue. Finally, we demonstrate the complete and rapid resolution of clinical symptoms associated with ISG15 deficiency in one sibling from the second family following treatment with the Janus kinase (JAK) inhibitor baricitinib.

Propranolol for infantile haemangiomas: single centre experience of 250 cases and proposed therapeutic protocol.

OBJECTIVE: To assess the safety and efficacy of systemic propranolol for the treatment of complicated infantile haemangiomas. DESIGN: Retrospective review of case notes of paediatric patients treated with propranolol for complicated infantile haemangiomas. SETTING: Tertiary care children's hospital. PATIENTS: All paediatric patients with complicated infantile haemangiomas who commenced treatment with propranolol from July 2008 to December 2011 and have completed treatment for at least 3 months. RESULTS: 250 patients were treated with propranolol; 34.4% were premature and 5.6% postmature. Indications for propranolol included: vision compromise (42.0%), bleeding and/or ulceration (30.4%) airway obstruction (8.8%), feeding difficulty (8.4%), risk of permanent disfigurement (4.4%) and other (6%) (nasal obstruction, auditory canal obstruction, large haemangioma, compression of neck structure and spinal cord). Median age at beginning of treatment was 4.5 months. Median age at end of treatment was 16.7 months. Median length of therapy was 11.8 months. Adverse effects (such as wheezing, worsening of ulceration, sleep disturbance, diarrhoea) occurred in 38 patients (15.2%), leading to modifications in management in 26 patients (10.4%). 240 patients (96%) had good to excellent response to treatment. 20 patients (8%) experienced regrowth of the haemangioma on cessation of propranolol and six patients (2.4%) required propranolol to be restarted. CONCLUSIONS: In appropriately selected patients, propranolol is a safe and effective treatment for infantile haemangiomas.

Complete mapping of lateral and medial sural artery perforators: anatomical study with Duplex-Doppler ultrasound correlation.

INTRODUCTION: The precise vascular anatomy of posterior lower leg skin is not well understood. Despite being a potential donor site for sural artery perforator flaps, this region is rarely used and underestimated. The aim of this study was to provide exact preoperative planning for medial and lateral sural artery perforator flap harvest. METHODS: An anatomical study on 16 cadaveric lower legs was performed to determine the number and location of all medial and lateral sural artery perforators in relation to five fixed points (medial and lateral maleolus, calcaneus, medial and lateral condyle). A Duplex study on 32 lower legs determined the number and location of dominant medial and lateral sural artery perforators in relation to same anatomical points. Results of the two studies were correlated. RESULTS: A total of 234 perforators were found in the anatomical (134) and Duplex studies (100). A dominant lateral sural artery perforator was found in 9.4% of all lateral perforators in 31% of dissected legs. A dominant medial sural artery perforator was found in 37% of all medial perforators in 94% of legs. The difference in the number of dominant medial and lateral perforators was significant (p < 0.001) in the anatomical study, while no significant difference was found in the Duplex study (p = 0.920). CONCLUSION: The anatomical study showed relative unreliability of sural region regarding number of dominant perforators. Therefore, harvest of medial and particularly lateral sural artery perforator flap is unsafe without preoperative perforator mapping. No significant difference in location of dominant perforators was found between Duplex and anatomical studies. Duplex proved reliable for planning of sural artery perforator flaps due to high precision in detecting location of dominant perforators.