Faculty Bibliography

Lupus anti-coagulant hypoprothrombinemia syndrome (LAHPS) is a rare condition that can be difficult to treat. It increases the risk of thrombosis and bleeding due to the presence of lupus anti-coagulant and factor II deficiency, respectively. There are a limited number of cases described in the literature. Herein we describe a case of LAHPS with bleeding symptoms as a first clinical manifestation of systemic lupus erythematosus (SLE) in an 8-year-old female. She has had multiple recurrences of her bleeding symptoms, requiring treatment with steroids, cyclophosphamide, mycophenolate mofetil, and rituximab. Her course was later complicated by development of arthritis and lupus nephritis. Her complicated course provides a new perspective on the clinical course and treatment of LAHPS. We also present a comprehensive literature review which demonstrates the difficulty in treating patients with LAHPS with underlying SLE and the variability of the clinical course and management of LAHPS depending on the age at presentation.

OBJECTIVES/OBJECTIVE:Despite poor healthcare transition outcomes among young adults with pediatric rheumatic diseases, adoption of transition best practices is low. We sought to understand how structured transition processes were operationalized within pediatric rheumatology practices and what factors were perceived to enable adaptations during a global pandemic. METHODS:We conducted a mixed methods study of team leaders' experiences during an interim analysis of a pilot project to implement transition policy discussions at sites in the Childhood Arthritis and Rheumatology Research Alliance Transition Learning Collaborative. We combined quantitative assessments of organizational readiness for change (9 sites) and semi-structured interviews of team leaders (8 sites) using determinants in the Exploration, Preparation, Implementation, Sustainment Framework. RESULTS:Engagement of nursing and institutional improvement efforts facilitated decisions to implement transition policies. Workflows incorporating educational processes by non-physicians were perceived to be critical for success. When the pandemic disrupted contact with non-physicians, capacity for automation using electronic medical record (EMR)-based tools was an important facilitator, but few sites could access these tools. Sites without EMR-based tools did not progress despite reporting high organizational readiness to implement change at the clinic level. Lastly, educational processes were often superseded by acute issues, such that youth with greater medical/psychosocial complexity may not receive the intervention. CONCLUSIONS:We generated several considerations to guide implementation of transition processes within pediatric rheumatology from the perspectives of team leaders. Careful assessment of institutional and nursing support is advisable before conducting complex transition interventions. Ideally, new strategies would ensure interventions reach youth with high complexity.

Multisystem inflammatory syndrome in children (MIS-C) is thought to follow SARS-CoV-2 infection and presents with fever and multisystem dysfunction. We report three children with suspected MIS-C found to have retropharyngeal edema without evidence of a bacterial etiology. We raise the possibility that an association between MIS-C and retropharyngeal edema exists.

Importance/UNASSIGNED:To date, no study has characterized the mucocutaneous features seen in hospitalized children with multisystem inflammatory syndrome in children (MIS-C) or the temporal association of these findings with the onset of systemic symptoms. Objective/UNASSIGNED:To describe the mucocutaneous findings seen in children with MIS-C during the height of the coronavirus disease 2019 (COVID-19) pandemic in New York City in 2020. Design, Setting, and Participants/UNASSIGNED:A retrospective case series was conducted of 35 children admitted to 2 hospitals in New York City between April 1 and July 14, 2020, who met Centers for Disease Control and Prevention and/or epidemiologic criteria for MIS-C. Main Outcomes and Measures/UNASSIGNED:Laboratory and clinical characteristics, with emphasis on mucocutaneous findings, of children who met criteria for MIS-C. The characterization of mucocutaneous features was verified by 2 board-certified pediatric dermatologists. Results/UNASSIGNED:Twenty-five children (11 girls [44%]; median age, 3 years [range, 0.7-17 years]) were identified who met definitional criteria for MIS-C; an additional 10 children (5 girls [50%]; median age, 1.7 years [range, 0.2-15 years]) were included as probable MIS-C cases (patients met all criteria with the exception of laboratory test evidence of severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2] infection or known exposure). The results of polymerase chain reaction tests for SARS-CoV-2 were positive for 10 patients (29%), and the results of SARS-CoV-2 immunoglobulin G tests were positive for 19 patients (54%). Of the 35 patients, 29 (83%) exhibited mucocutaneous changes, with conjunctival injection (n = 21), palmoplantar erythema (n = 18), lip hyperemia (n = 17), periorbital erythema and edema (n = 7), strawberry tongue (n = 8), and malar erythema (n = 6) being the most common findings. Recognition of mucocutaneous findings occurred a mean of 2.7 days (range, 1-7 days) after the onset of fever. The duration of mucocutaneous findings varied from hours to days (median duration, 5 days [range, 0-11 days]). Neither the presence nor absence of mucocutaneous findings was significantly associated with overall disease severity. Conclusions and Relevance/UNASSIGNED:In this case series of hospitalized children with suspected MIS-C during the COVID-19 pandemic, a wide spectrum of mucocutaneous findings was identified. Despite their protean and transient nature, these mucocutaneous features serve as important clues in the recognition of MIS-C.

BACKGROUND:The CLASI is a reliable outcome measure for cutaneous lupus erythematosus (CLE) in adults used in clinical trials. However, it has not been validated in children, limiting clinical trials for pediatric CLE. OBJECTIVE:This study aims to validate the CLASI in pediatrics. METHODS:Eleven pediatric patients with CLE, six dermatologists and six rheumatologists, participated. Physicians were trained to use the CLASI and Physician Global Assessment (PGA). Physicians individually rated all patients using both tools. Each physician reassessed two randomly selected patients. Within each physician group, Intraclass Correlation Coefficient (ICC) was calculated to assess the reliability of each measure. RESULTS:CLASI activity scores demonstrated excellent inter- and intra-rater reliability (ICC>0.90), while the PGA activity scores had good inter-rater reliability (ICC 0.73-0.77) among both specialties. PGA activity scores showed excellent intra-rater reliability (ICC=0.89) and good intra-rater reliability (ICC=0.76) for dermatologists and rheumatologists, respectively. LIMITATIONS/CONCLUSIONS:Limitations of this study included the small sample size of patients and potential recall bias during the physician re-rating session. CONCLUSION/CONCLUSIONS:CLASI activity measurement showed excellent inter- and intra-rater reliability in pediatric CLE and superiority to findings with the PGA. These results demonstrate that the CLASI is a reliable and valid outcome instrument for pediatric CLE.

BACKGROUND:A standardized set of quality measures for juvenile idiopathic inflammatory myopathies (JIIM) is not in use. Discordance has been shown between the importance ascribed to quality measures between patients and families and physicians. The objective of this study was to assess and compare the importance of various aspects of high quality care to patients with JIIM and their families with healthcare providers, to aid in future development of comprehensive quality measures. METHODS:Surveys were developed by members of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Juvenile Dermatomyositis Workgroup through a consensus process and administered to patients and families through the CureJM Foundation and to healthcare professionals through CARRA. The survey asked respondents to rate the importance of 19 items related to aspects of high quality care, using a Likert scale. RESULTS:Patients and families gave generally higher scores for importance to most of the quality measurement themes compared with healthcare professionals, with ratings of 13 of the 19 measures reaching statistical significance (p < 0.05). Of particular importance, however, was consensus between the groups on the top five most important items: quality of life, timely diagnosis, access to rheumatology, normalization of functioning/strength, and ability for self care. CONCLUSIONS:Despite overall differences in the rating of importance of quality indicators between patients and families and healthcare professionals, the groups agreed on the most important aspects of care. Recognizing areas of particular importance to patients and families, and overlapping in importance with providers, will promote the development of standardized quality measures with the greatest potential for improving care and outcomes for children with JIIM.

BACKGROUND: Juvenile dermatomyositis (JDM) is the most common form of the idiopathic inflammatory myopathies in children. A subset of children have the rash of JDM without significant weakness, and the optimal treatments for these children are unknown. The goal of this study was to describe the development of consensus clinical treatment plans (CTPs) for children with JDM who have active skin rashes, without significant muscle involvement, referred to as skin predominant JDM in this manuscript. METHODS: The Children's Arthritis and Rheumatology Research Alliance (CARRA) is a North American consortium of pediatric rheumatology health care providers. CARRA members collaborated to determine consensus on typical treatments for JDM patients with skin findings without significant weakness, to develop CTPs for this subgroup of patients. We used a combination of Delphi surveys and nominal group consensus meetings to develop these CTPs. RESULTS: Consensus was reached on patient characteristics and outcome assessment, and CTPs were developed and finalized for patients with skin predominant JDM. Treatment option A included hydroxychloroquine alone, Treatment option B included hydroxychloroquine and methotrexate, and Treatment option C included hydroxychloroquine, methotrexate and corticosteroids. CONCLUSIONS: Three CTPs were developed for use in children with skin predominant JDM, which reflect typical treatment approaches. These are not considered to be specific recommendations or standard of care. Using the CARRA network and prospective data collection, we will be able to apply statistical methods in the future to allow comparisons of JDM patients following these consensus treatment plans.

OBJECTIVE: Juvenile dermatomyositis (JDM) is the most common form of idiopathic inflammatory myopathy in children. While outcomes are generally thought to be good, persistence of skin rash is a common problem. The goal of this study was to describe the development of clinical treatment plans (CTP) for children with JDM characterized by persistent skin rash despite complete resolution of muscle involvement. METHODS: The Childhood Arthritis and Rheumatology Research Alliance, a North American consortium of pediatric rheumatologists and other healthcare providers, used a combination of Delphi surveys and nominal group consensus meetings to develop CTP that reflected consensus on typical treatments for patients with JDM with persistent skin rash. RESULTS: Consensus was reached on patient characteristics and outcome assessment. Patients should have previously received corticosteroids and methotrexate (MTX). Three consensus treatment plans were developed. Plan A added intravenous immunoglobulin (IVIG) if it was not already being used. Plan B added mycophenolate mofetil, while Plan C added cyclosporine. Continuation of previous treatments, including corticosteroids, MTX, and IVIG, was permitted in plans B and C. CONCLUSION: Three consensus CTP were developed for use in children with JDM and persistent skin rash despite complete resolution of muscle disease. These CTP reflect typical treatment approaches and are not to be considered treatment recommendations or standard of care. Using prospective data collection and statistical methods to account for nonrandom treatment assignment, it is expected that these CTP will be used to allow treatment comparisons, and ultimately determine the best treatment for these patients.

BACKGROUND: Acute urinary retention (AUR) is a rare diagnosis both in pediatric and adult female populations, especially when compared to adult males. AUR occurs in women at a rate of 7 in 100,000 per year in a 1:13 female to male ratio. Multiple studies have shown that within the pediatric population AUR is far less common in females and is caused by different pathologies than AUR in adult women. CASE REPORT: We report the case of an 11 year-old prepubescent female who presented to the emergency department with acute urinary retention found to be caused by a mature cystic ovarian teratoma. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Our case is unique in that it describes an ovarian mass leading to AUR which has not previously been described in the pediatric literature. We will review the causes of AUR in the pediatric female population and compare these to the causes of AUR in other populations.