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Background/objective Dupilumab is highly effective in treating atopic dermatitis (AD). However, some patients experience difficulties with dupilumab therapy, such as inadequate clinical response, failure to achieve long-term disease control, or adverse events (AEs). Our objective is to assess inadequate response and AEs occurring in children on dupilumab therapy for AD. Methods This is a retrospective cohort study of children on dupilumab for AD. Collected variables included patient demographics, medical histories, and dupilumab therapy characteristics. Response analysis was conducted in those with ≥3 months of dupilumab therapy: primary poor responders were defined as those whose EASI scores did not decrease by >50%, and secondary poor responders were those who initially responded but had significant AD flares while on therapy. Results We included 200 patients on dupilumab for AD in our cohort; 192 received ≥3 months of therapy and were included in our response analysis. Twelve children experienced inadequate primary response, and 4 were secondary poor responders. Four of these 16 children discontinued therapy due to inadequate response. The most common dupilumab-associated AEs were facial erythema (n = 24, 12.0%) and injection-site reactions (n = 24, 12.0%). Female sex was significantly associated with experiencing injection-site reactions, and prior hospitalization was significantly associated with HSV infection on dupilumab. Eight patients discontinued therapy due to an AE. Conclusion A small but significant number of patients experienced treatment difficulties while on dupilumab. The risk of inadequate response to dupilumab and dupilumab-associated AEs should be discussed thoroughly with patients and their families prior to initiation.

Background Deficiencies in the skills necessary to diagnose and manage patients with skin of color may contribute to health disparities. The Pediatric Dermatology Research Alliance Special Interest Group in Pediatric Skin of Color (PSOCG) convened to generate a curriculum of topics required for basic pediatric skin of color (PSOC) education for medical students and residents in dermatology to improve the quality of education in PSOC. Methods A survey was distributed to the PSOCG members to assess expert opinion regarding critical topics for inclusion in a basic PSOC syllabus. Video conference and two rounds of survey were used to rank topics for inclusion and to highlight the underlying need for inclusion. Results Group members composed of academic pediatric dermatologists with teaching responsibilities including skin of color topics for dermatology residents and medical students. Learning objectives were developed for an educational lecture on basic science, and clinical conditions affecting PSOC were grouped by age-infantile, pediatric, and adolescent skin conditions affecting the PSOC population were identified for inclusion with rank score based on specific parameters including greater frequency in skin of color, nuances in skin of color, and need for medical workup. Conclusions Increased focus on PSOC education is needed to improve quality of care for children of color through enhanced knowledge. Inflammatory, genetic, and particularly primary pigmentary disorders should be the focus of a broad curriculum in pediatric skin of color education for medical trainees. Objectives should include improved diagnosis, treatment, and ability to educate patients and their families regarding the nature of their conditions.

Background/objectives Patients with rare diseases are challenged when it comes to finding physicians with expertise in their condition. The Foundation for Ichthyosis and Related Skin Types (FIRST) Tele-Ichthyosis program has provided telemedicine for patients and their families with keratinizing disorders since 2009. This study aims to characterize a decade of experience with the program. Methods This retrospective cohort study analyzed cases for demographics of patients and the clinicians who submitted their cases, nature of questions asked, number of expert responses, and characteristics of responses. Surveys were sent electronically to all users of the FIRST Tele-Ichthyosis service to assess experiences with the service and solicit constructive recommendations. Descriptive statistics were performed on the case review and responder surveys. Results Eighty-eight geographically diverse cases were reviewed showing increased use over time by various specialists for patients of all ages. Sixty-six percent of cases were definitively ichthyosis, and most submitters queried on diagnosis (47%) or treatment (72%). Most submitters described the service as easy to use (66.6%) and advice as timely (61.1%), clear (66.6%), and beneficial (61.1%). All submitters made suggestions for improvement (100%). Experts predominately worked with pediatric populations (70%) and reported self-motivation to volunteer and improve patients' lives (100%). Experts found technological barriers minor and provided feedback to enhance the service. Conclusions This report highlights how a rare-disease patient advocacy group successfully supports physician collaboration and patient outcomes through secure and efficient telemedicine. Lessons learned are highly relevant in the current healthcare environment.

Background/objectives The COVID-19 pandemic has raised questions about the approach to management of systemic immunosuppressive therapies for dermatologic indications in children. Change to: Given the absence of data to address concerns related to SARS-CoV-2 infection and systemic immunosuppressive therapies in an evidence-based manner, a Pediatric Dermatology COVID-19 Response Task Force (PDCRTF) was assembled to offer time-sensitive guidance for clinicians. Methods A survey was distributed to an expert panel of 37 pediatric dermatologists on the PDCRTF to assess expert opinion and current practice related to three primary domains of systemic therapy: initiation, continuation, and laboratory monitoring. Results Nearly all respondents (97%) reported that the COVID-19 pandemic had impacted their decision to initiate immunosuppressive medications. The majority of pediatric dermatologists (87%) reported that they were pausing or reducing the frequency of laboratory monitoring for certain immunosuppressive medications. In asymptomatic patients, continuing therapy was the most popular choice across all medications queried. The majority agreed that patients on immunosuppressive medications who have a household exposure to COVID-19 or test positive for new infection should temporarily discontinue systemic and biologic medications, with the exception of systemic steroids, which may require tapering. Conclusions The ultimate decision regarding initiation, continuation, and laboratory monitoring of immunosuppressive therapy during the pandemic requires careful deliberation, consideration of the little evidence available, and discussion with families. Consideration of an individual's adherence to COVID-19 preventive measures, risk of exposure, and the potential severity if infected must be weighed against the dermatological disease, medication, and risks to the patient of tapering or discontinuing therapies.

Background/objectives Epidermolysis bullosa (EB) comprises a group of inherited skin blistering diseases. There is currently no cure, and management includes skin protection and prevention of infection. To date, there has been no systematic investigation of home skin care practices among EB patients on a multicenter scale. Methods This cross-sectional, observational study included data collected from patients with EB enrolled in the Epidermolysis Bullosa Characterization and Clinical Outcomes Database (EBCCOD) who provided answers to a patient-directed questionnaire between January 1, 2017, and December 31, 2017. Results Of 202 respondents, 130 (64.4%) had dystrophic EB, 51 (25.2%) had EB simplex, 21 (7.4%) had junctional EB, 3 (1.5%) had Kindler syndrome, and 3 (1.5%) had an unspecified subtype. Seventy-eight patients reported cleansing in plain water only (39%). Of those who used an additive in their cleansing water, 75 (57%) added salt, 71 (54%) added bleach, 36 (27%) added vinegar, and 34 (26%) endorsed the use of an "other" additive (multiple additives possible). Reported concentrations of additives ranged widely from 0.002% sodium hypochlorite and 0.002% acetic acid solutions, which are thought to have negligible effects on microbes, to 0.09% sodium hypochlorite and 0.156% acetic acid, concentrations shown to be cytotoxic. One hundred eighty-eight patients answered questions regarding topical product use (93%). Of those, 131 reported topical antimicrobial use (70%). Mupirocin and bacitracin were the most commonly reported topical antibiotics (59, 58 [31.4%, 30.9%], respectively). Conclusions These findings highlight the variety of skin care routines and frequent use of topical antimicrobials among EB patients and have potential implications for antibiotic resistance. The reported range of bleach and vinegar additives to cleansing water, including cytotoxic concentrations, emphasizes the need for clear and optimized skin cleansing recommendations.

Background Systemic sirolimus (rapamycin) has recently been found effective in treating complex vascular anomalies by reducing the size and associated complications. Many vascular anomalies have a cutaneous component, and thus, we sought to determine whether topical administration of sirolimus may be an effective therapy, as data on the use of topical sirolimus are limited. Objective We reviewed the efficacy and tolerability of topical formulations of sirolimus in the treatment of various simple and combined vascular malformations and tumors. Methods Eighteen patients with any vascular anomaly treated exclusively with topical sirolimus were retrospectively reviewed. Results Eleven patients had combined venous lymphatic malformations, three had tufted angiomas, two had a lymphatic malformation, one had a venous malformation, and one had a verrucous venous malformation. All (100%) patients reported some degree of improvement and 50% of patients reported marked improvement in one or more symptoms, most commonly blebs and lymphatic drainage, and bleeding. Limitations The retrospective nature, small number of patients, and differences in topical preparations limit the broad application of the results. Conclusion Topical sirolimus appears to be a safe and useful non-invasive therapy that is well-tolerated in the treatment of the cutaneous portion of a variety of vascular anomalies.

Background/objectives Stevens-Johnson syndrome and toxic epidermal necrolysis represent important sources of potential mortality and morbidity in children. There is a need for more clinical data in this population to determine whether specific treatments preferentially improve outcomes. Methods This was a single-center retrospective review of children admitted with drug-induced Stevens-Johnson syndrome, toxic epidermal necrolysis or Stevens-Johnson syndrome/toxic epidermal necrolysis overlap at a tertiary care pediatric institution in North America from 2008 to 2018. Patients without a dermatology assessment and diagnosis were excluded. Demographic, clinical, and treatment information were abstracted and reviewed for all included patients. Results Sixteen patients were identified, 43% female (7/16), with a mean age at presentation of 10.4 ± 5.2 years. Antibiotics were implicated in 56.3% of patients (9/16) and anticonvulsants in 31.3% (5/16). Sulfamethoxazole-trimethoprim was the triggering antibiotic in 31.3% of patients. The majority of patients were treated with intravenous immunoglobulin alone (50%, 8/16) or intravenous immunoglobulin with steroids (25%, 4/16). Etanercept was added to intravenous immunoglobulin and corticosteroid in a 2-year-old patient, resulting in clinical stabilization and halting of epidermolysis. No patients died. Clinical sequelae were noted in five patients, including ocular complications (n = 4), labial adhesions (n = 1), and persistent skin dyspigmentation (n = 3). Conclusions Our results highlight that sulfamethoxazole-trimethoprim is an important cause of Stevens-Johnson syndrome-toxic epidermal necrolysis in children. Mortality was reassuringly low, but ocular sequelae were an important cause of morbidity. More data are needed to help determine whether specific treatments including etanercept may provide mortality or morbidity benefit in pediatric populations.

BACKGROUND/OBJECTIVES Epidemiologic studies of children with alopecia areata (AA) are sparse, and there are no studies that focus on the youngest children with AA. Evaluation of the clinical presentations of AA in children

Significant psychiatric and psychosocial comorbidity in the pediatric dermatology patient was observed. This paper gives a realistic approach on how to approach these issues in the typical pediatric dermatology clinic. It will outline how to implement a validated screening process, how to discuss these issues with patients, and when and how to make an appropriate mental health referral.

Background/Objective In spring 2020, high numbers of children presented with acral pernio‐like skin rashes, concurrent with the coronavirus disease 2019 (COVID‐19) pandemic. Understanding their clinical characteristics/ infection status may provide prognostic information and facilitate decisions about management. Methods A pediatric‐specific dermatology registry was created by the Pediatric Dermatology COVID‐19 Response Task Force of the Society for Pediatric Dermatology (SPD) and Pediatric Dermatology Research Alliance (PeDRA) and was managed by Children's Hospital of Philadelphia using REDCap. Results Data from 378 children 0‐18 years entered into the registry between April 13 and July 17, 2020 were analyzed. Data were drawn from a standardized questionnaire completed by clinicians which asked for demographics, description of acral lesions, symptoms before and after acral changes, COVID‐19 positive contacts, treatment, duration of skin changes, laboratory testing including SARS‐CoV‐2 PCR and antibody testing, as well as histopathology. 229 (60.6%) were male with mean age of 13.0 years (± 3.6 years). Six (1.6%) tested positive for SARS‐CoV‐2. Pedal lesions (often with pruritus and/or pain) were present in 96%. 30% (114/378) had COVID‐19 symptoms during the 30 days prior to presentation. Most (69%) had no other symptoms and an uneventful course with complete recovery. Conclusions and Relevance Children with acral pernio‐like changes were healthy and all recovered with no short‐term sequelae. We believe these acral changes are not just a temporal epiphenomenon of shelter in place during the spring months of the first wave of the COVID‐19 pandemic and may be a late phase reaction that needs further study.

The relationship between alopecia areata and celiac disease has been suspected for more than 20 years. For a particular individual with alopecia areata, the risk of coexisting celiac disease and the potential benefit of a gluten-free diet on hair loss or regrowth is known. Despite this limited information, patients often aske dermatologists whether they should undergo celiac disease testing or begin a gluten-free diet. We reviewed all available studies of the relationship between alopecia areata and celiac disease to provide guidance to practicing clinicians.

The treatment options for ichthyosis are limited. Successful treatment with topical N-acetylcysteine has been reported in a small number of patients, with generally good results. We report the finding of a retrospective chart review of 18 patients treated with N-acetylcysteine. Although topical N-acetylcysteine is an effective therapy for some patients with ichthyosis, problems with irritation, objectionable odor, and compounding costs limit its use.

Background/objectives Severe atopic dermatitis (AD) may require systemic immunomodulatory agents to control symptoms. A lack of evidence and guidelines for systemic AD therapy in children has led to variability in agents selected and uncertainty in their comparative efficacy and safety. Evaluation of the efficacy of methotrexate in children with severe AD was performed. Methods We performed a retrospective chart review of 55 pediatric patients seen at Children's Hospital of Philadelphia that measured improvement using the Investigator's Global Assessment (IGA), a scale that rates AD symptoms from 0 to 5. Results About 76% of patients showed improvement with methotrexate. Mean baseline IGA of all patients was 4.18. After 6-9 months of treatment, this improved to 2.94. There was additional improvement to a mean IGA score of 2.39 after 12-15 months of treatment. At the final visit before each patient stopped methotrexate, the mean IGA score was 2.71. Approximately 50% of patients experienced minor side effects with gastrointestinal side effects the most common. Conclusions In a diverse patient population, safety and efficacy of methotrexate was demonstrated. Significant improvement in IGA was noted for the majority after 6-9 months of therapy with further improvement when continuing treatment to 12-15 months. Methotrexate remains an important option for long-term symptom control with a favorable side effect profile and low cost.

PHACE is an association between large infantile hemangiomas and brain, arterial, cardiac, and/or ocular abnormalities. Aortic or subclavian aberrations are the most common cardiovascular anomalies in PHACE, whereas complex congenital heart disease is rare. We report a case of Holmes heart and three cases of tetralogy of Fallot in PHACE association.

Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large-scale studies. We conducted a 7-year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results. The anatomic location of the lesion (vertex, midline) (P = .01), presence of hair collar sign (P < .001), vascular stains (P < .001), and nodules (P = .007) were found to be strong clinical indicators of skull or cerebrovascular involvement.

We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.

Transverse melanonychia is a rare finding often secondary to chemotherapy, orally ingested medications, or other iatrogenic interventions. A 19-month-old boy with hemophagocytic lymphohistiocytosis treated with biweekly etoposide and dexamethasone developed transverse bands of pigment in all toenail and fingernail units consistent with transverse melanonychia. We review the literature for reported cases of transverse melanonychia and summarize suspected etiologies.