Faculty Bibliography

Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.

The rate of pediatric hospitalization for cutaneous pathology has been increasing in recent years, often requiring the expertise of consulting pediatric dermatologists; however, the infrastructure of inpatient pediatric dermatology consultative services remains poorly characterized. We sought to assess the structure, consult volume, physician compensation, and utilization of teledermatology in pediatric dermatology inpatient services to better understand the current care model. Our survey of 118 pediatric dermatologists revealed that 89% of respondents see between 1 and 10 new consults per week, 39% perform all inpatient consults including evening and weekends without assistance from other providers, 71% do not have protected time during the week to provide inpatient consultations, and only 10% receive financial compensation via stipend. By highlighting both the high demand for pediatric consultative dermatology as well as the significant burden placed on these providers by existing practice models, we hope to encourage a reappraisal of the current infrastructure of pediatric inpatient dermatology to increase structural and financial support for this vital service.

PURPOSE OF REVIEW/OBJECTIVE:This review provides updates in the evaluation and management of key dermatologic diseases encountered in the hospitalized child. RECENT FINDINGS/RESULTS:Our understanding of dermatologic disorders in children continues to evolve. Staphylococcal scalded skin syndrome (SSSS) is a potentially severe blistering disorder typically seen in children under the age of 4 with an incidence that is increasing in the United States. Recent research has highlighted that the majority of cases are due to methicillin-sensitive Staphylococcus aureus (MSSA) and most patients can be adequately managed with beta-lactams. Toxic epidermal necrolysis (TEN) is one of the most feared dermatologic disorders. Currently, there is a lack of consensus on the most efficacious first-line systemic therapy. Etanercept is increasingly being used based on studies showing a shorter time to re-epithelization and decreased mortality. Lastly, the COVID-19 pandemic introduced the novel inflammatory condition multisystem inflammatory syndrome in children (MIS-C) in which approximately three out of four children present with a mucocutaneous eruption. Early recognition of the dermatologic features of MIS-C is important in potentially establishing a diagnosis and differentiating it from the many other causes of childhood fever and rash. SUMMARY/CONCLUSIONS:There are no clear universal treatment guidelines for these rare diagnoses, and therefore, clinicians must remain informed of the latest findings in diagnosis and therapeutics.

IMPORTANCE/UNASSIGNED:Morphea is an insidious inflammatory disorder of the skin and deeper tissues. Determining disease activity is challenging yet important to medical decision-making and patient outcomes. OBJECTIVE/UNASSIGNED:To develop and validate a scoring tool, the Morphea Activity Measure (MAM), to evaluate morphea disease activity of any type or severity that is easy to use in clinical and research settings. DESIGN, SETTING, AND PARTICIPANTS/UNASSIGNED:This pilot diagnostic study was conducted from September 9, 2019, to March 6, 2020, in 2 phases: development and validation. During the development phase, 14 morphea experts (dermatologists and pediatric dermatologists) used a Delphi consensus method to determine items that would be included in the MAM. The validation phase included 8 investigators who evaluated the tool in collaboration with 14 patients with pediatric morphea (recruited from a referral center [Medical College of Wisconsin]) during a 1-day in-person meeting on March 6, 2020. MAIN OUTCOMES AND MEASURES/UNASSIGNED:During the development phase, online survey items were evaluated by experts in morphea using a Likert scale (score range, 0-10, with 0 indicating not important and 10 indicating very important); agreement was defined as a median score of 7.0 or higher, disagreement as a median score of 3.9 or lower, and no consensus as a median score of 4.0 to 6.9. During the validation phase, reliability (interrater and intrarater agreement using intraclass correlation coefficients), validity (using the content validity index and κ statistics as well as correlations with the modified Localized Scleroderma Severity Index and the Physician Global Assessment of Activity using Spearman ρ coefficients), and viability (using qualitative interviews of investigators who used the MAM tool) were evaluated. Descriptive statistics were used for quantitative variables. Data on race and ethnicity categories were collected but not analyzed because skin color was more relevant for the purposes of this study. RESULTS/UNASSIGNED:Among 14 survey respondents during the development phase, 9 (64.3%) were pediatric dermatologists and 5 (35.7%) were dermatologists. After 2 rounds, a final tool was developed comprising 10 items that experts agreed were indicative of morphea activity (new lesion in the past 3 months, enlarging lesion in the past 3 months, linear lesion developing progressive atrophy in the past 3 months, erythema, violaceous rim or color, warmth to the touch, induration, white-yellow or waxy appearance, shiny white wrinkling, and body surface area). The validation phase was conducted with 14 patients (median age, 14.5 years [range, 8.0-18.0 years]; 8 [57.1%] female), 2 dermatologists, and 6 pediatric dermatologists. Interrater and intrarater agreement for MAM total scores was good, with intraclass correlation coefficients of 0.844 (95% CI, 0.681-0.942) for interrater agreement and 0.856 (95% CI, 0.791-0.901) for intrarater agreement. Correlations between the MAM and the modified Localized Scleroderma Severity Index (Spearman ρ = 0.747; P < .001) and the MAM and the Physician Global Assessment of Activity (Spearman ρ = 0.729; P < .001) were moderately strong. In qualitative interviews, evaluators agreed that the tool was easy to use, measured morphea disease activity at a single time point, and should be responsive to changes in morphea disease activity over multiple time points. CONCLUSIONS AND RELEVANCE/UNASSIGNED:In this study, the MAM was found to be a reliable, valid, and viable tool to measure pediatric morphea activity. Further testing to assess validity in adults and responsiveness to change is needed.

• Discoid lupus may be associated with SLE. In this study, most children with discoid lupus did not have systemic disease. Concurrent SLE was highest in female adolescents (>10 years of age) with generalized discoid lupus, who had clinically aggressive disease. • Discoid lupus in adolescence should prompt thorough evaluation for SLE.

Morbilliform eruptions inspire a broad and varied differential spanning across inflammatory and infectious categories. The goal of this article is to help the clinician develop an approach toward the pediatric patient with a morbilliform eruption in the emergency room or hospital setting. The authors review several high-yield clinical scenarios with a focus on recently emerging and reemerging childhood diagnoses.

Variants in RAS are known drivers of certain pediatric blood and solid cancers, including brain tumors. Though most RAS-driven cancers are thought to occur sporadically, genetic syndromes caused by germline RAS variants portend a slightly higher risk of rhabdomyosarcoma (RMS) development. Three new cases and a review of the literature demonstrate that in rare cases, certain somatic RAS variants are associated with an increased risk of RMS and that RMS development may be heralded by the presence of concomitant RAS-driven birthmarks. Further prospective studies are needed to establish incidence and recommend appropriate monitoring guidelines for patients at risk.