Inpatient management of epidermolysis bullosa: Consensus-based hands-on instructions for neonates and postneonates.

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and postneonatal period. METHODS: A modified Delphi method (expert-based input via 2 surveys and a final review) was implemented. Available guidelines from EB Clinical Research Consortium centers were analyzed to determine areas of focus and formulate statements to be voted on by EB Clinical Research Consortium members, experienced EB nurses, and select family members. Study participants evaluated statements using a Likert scale: statements with at least 70% agreement were accepted; statements with 30% or more disagreement were rejected. RESULTS: Ten areas of focus were identified. Delphi participants included 15 dermatologists, 8 nurses, and 6 nonhealth care caregivers. Consensus was established on 103/119 neonatal statements and 105/122 postneonatal statements; no statements were rejected. Most recommendations applied to both age groups. LIMITATIONS: Recommendations may require adjustment based on individual patient's clinical context. CONCLUSION: Using the Delphi method, a consensus-derived resource for hospital-based health care professionals who manage patients with EB has been developed to improve the quality of inpatient care.

Posterior reversible encephalopathy syndrome in the setting of IgA vasculitis.

IgA vasculitis (IgAV), formerly known as Henoch-Scholein purpura, is a small vessel vasculitis, most commonly seen in pediatric patients, that can affect numerous internal organs including the kidneys, lungs, gastrointestinal tract, and the central nervous system (CNS). CNS manifestations of this condition include hypertensive encephalopathy, thrombosis, optic neuropathy, seizures, CNS vasculitis, and a more recently described phenomenon known as posterior reversible encephalopathy syndrome (PRES). Symptoms of PRES include hypertension, altered mental status, and seizures caused by vasogenic disruption of the blood-brain barrier, and the condition is diagnosed by characteristic edema-related gray-white matter changes in the parieto-occipital lobes on magnetic resonance imaging. Herein, we present a rare case of PRES as a presenting sign of IgAV to increase awareness about this unusual association.

Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning-Feuerstein-Mims syndrome.

We present the case of a 20-month-old girl with Schimmelpenning-Feuerstein-Mims (SFM) syndrome with extensive head, neck, and torso skin involvement successfully managed with topical trametinib. Trametinib interferes downstream of KRAS and HRAS in the MAPK signaling pathway, of which KRAS was implicated in our child's pathogenic variant. Although other dermatologic conditions have shown benefit from oral trametinib, its topical use has not been well reported. Our patient showed benefit from the use of twice-daily topical trametinib, applied to the epidermal and sebaceous nevi over a 16-month period, leading to decreased pruritus and thinning of the plaques.

In-person validation of the Ichthyosis Scoring System.

BACKGROUND: Ichthyoses are a heterogeneous group of skin disorders characterized by scaling and erythema. Recognizing the variability of scale and erythema by region and ichthyosis subtype, we developed the Ichthyosis Scoring System (ISS) to quantify severity. We previously found ISS to have high inter- and intrarater reliability in evaluating photographic images. To confirm ISS clinical utility, we examined its performance at the 2022 Foundation for Ichthyosis and Related Skin Types conference. METHODS: Sixty-five participants were evaluated by 3 of 9 medical professionals trained to score ichthyosis scale and erythema using ISS. Intrarater and interrater intraclass correlation coefficients (ICC) were analyzed using one-way and two-way random effects models, respectively. RESULTS: Intrarater reliability was excellent (ICC = 0.931, 95% CI, 0.921-0.940) for scale and good (ICC = 0.876, 95% CI, 0.853-0.899) for erythema scoring. Compared to photo validation with excellent intrarater reliability ratings for both scale (ICC = 0.956, 95% CI, 0.925-0.974) and erythema (ICC = 0.913, 95% CI, 0.855-0.949), ISS demonstrated equivalent reliability for live use. Overall interrater reliability for 10 body sites showed excellent (ICC >0.9) and good (ICC >0.75) agreement and consistency for both scale and erythema. Palms were an exception, demonstrating moderate (ICC >0.5) interrater agreement and consistency for erythema evaluation. CONCLUSIONS: ISS is a reliable measure of global and regional ichthyosis severity during in-person evaluations. Ease-of-use, accessibility, and content validity in both live and photographic evaluation endorse ISS as a standard for ichthyosis severity analysis.

Gastrostomy tube feeding in epidermolysis bullosa: A multi-center assessment of caregiver satisfaction.

BACKGROUND/OBJECTIVES: Gastrostomy tubes (G-tubes) are a feasible intervention for nutritional support in patients with epidermolysis bullosa (EB) who suffer from gastrointestinal involvement. However, some parents may be apprehensive about this surgical intervention. The purpose of this study is to assess caregiver satisfaction and experiences after G-tube insertion in children with EB. METHODS: Nine institutions sent an anonymous 89-item online questionnaire to caregivers of patients with EB and active G-tubes during an 8-week study period. The questionnaire consisted of eight sections and was formatted with multiple choice, Likert scales, dichotomous scales (yes/no), and free text. RESULTS: Twenty caregiver surveys were completed. All caregivers were parents (100%). The average age of G-tube placement was 2.7 years (SD: 2.1, range 0-8) and duration of the G-tube utilization was an average of 12.0 years (SD: 7.8, range 1-25). EB subtypes were dystrophic (n = 15/20, 75%), junctional (n = 3/20, 15%), and simplex (n = 2/10, 10%). Almost all caregivers (n = 18/20, 90%) reported high levels of satisfaction with G-tube management (scores > 20 on the modified SAGA-8 scale). More than half of caregivers (n = 12/20, 60%) reported that, retrospectively, they would have desired earlier adoption of the G-tube. Caregivers rated mealtimes as more enjoyable and easier both for themselves and the individual with EB post-G-tube placement. CONCLUSION: The survey demonstrates a high rate of satisfaction for G-tube use among caregivers of patients with EB across varying ages and household settings. The free-text responses provide unique insight into caregiver's individual experiences regarding G-tubes to be considered for future studies.

Virtual reality and noise canceling headphone distraction during pediatric dermatologic procedures.

Pain and anxiety related to medical procedures have long been recognized as a significant healthcare concern. If a patient's procedural pain and anxiety are not addressed, long-term physical and psychological sequelae including increased perceived pain, anxiety, disruptive behavior, trauma reactions, or refusal of future procedures can occur. The objective of our study was to assess the utility of a virtual reality (VR) headset or noise-canceling headphones (HP) compared to treatment as usual (TAU) in reducing pain and anxiety during pediatric dermatology procedures. Results indicated a significant difference between pre- versus post-procedure anxiety in the VR and HP groups but not the TAU group suggesting non-pharmacologic technology-based interventions such as VR and headphones may reduce patients' anxiety during pediatric dermatology procedures.

Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa.

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.

A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.

BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE: To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB. METHODS: A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal. RESULTS: A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%). LIMITATIONS: Retrospective design. CONCLUSIONS: Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.

Reducing anxiety and preventing trauma in pediatric epidermolysis bullosa.

Although dermatologists are well-trained in the medical management of complex skin disease, psychosocial care often exceeds a dermatologist's skillset. We aim to elucidate major factors to consider in the comprehensive management of pediatric epidermolysis bullosa (EB) and provide care recommendations. There are many types of trauma a child with EB may experience, from social to psychological to medical. We include information on trauma-informed care and advice for the dermatologist and multidisciplinary team regarding patient-centered and family-centered approaches to recognizing and reducing anxiety and trauma in EB patients.

Validation of remote atopic dermatitis severity assessment with the Eczema Area and Severity Ondex in children using caregiver-provided photos and videos.

BACKGROUND/OBJECTIVES: We sought to quantify the reliability and validity of remote atopic dermatitis (AD) severity assessment using the Eczema Area and Severity Index (EASI) applied to caregiver-provided photos (p-EASI) and videos (v-EASI). METHODS: Children (0-17 years) with a physician diagnosis of AD were recruited. Caregivers took photos and a video of their child's skin. A clinician scored in-person EASI on the same day, then p-EASI and v-EASI for each participant 10 days or more between ratings. Two additional clinicians scored p-EASI and v-EASI. Lin's concordance correlation coefficient (CCC) was employed to assess criterion validity using in-person EASI as the gold standard. Intraclass correlation coefficients (ICCs) were calculated to assess interrater reliability of p-EASI and v-EASI. RESULTS: Fifty racially and ethnically diverse children (age [mean ± SD]: 4.3 ± 4.4 years; 42% female) with a range of AD severity (EASI: 6.3 ± 6.4) and Fitzpatrick skin types (1-2: 9%; 3-4: 60%; 5-6: 31%) were enrolled and received in-person EASI assessment. Fifty had p-EASI and 49 had v-EASI by the same in-person rater, and by two additional raters. The CCC and ICC for p-EASI were 0.89, 95% CI [0.83, 0.95] and 0.81, 95% CI [0.71, 0.89], respectively. The CCC and ICC for v-EASI were 0.75, 95% CI [0.63, 0.88] and 0.69, 95% CI [0.51, 0.81], respectively. CONCLUSIONS: In this diverse population with a range of skin tones, p-EASI showed good criterion validity and good interrater reliability. v-EASI showed moderate to good criterion validity and moderate interrater reliability. Both may be reliable and valid options for remote AD severity assessment.

Reframing racial and ethnic disparities in atopic dermatitis in Black and Latinx populations.

Black people in the United States experience greater atopic dermatitis (AD) prevalence, severity, and persistence when compared with White people. Although very little published literature describes AD in the Latinx population, additional differences in severity, persistence, and age of onset exist in contrast to White people. Thus far, genetic polymorphisms associated with increased risk and/or severity of AD are less common among Black people, so should confer reduced, rather than the observed increased, AD risk among Black people. Little is known regarding genetic risk factors in Latinx people. In contrast, there is consistent evidence that socioeconomic, environmental, and health care factors influence AD prevalence, severity, and/or persistence, and these same risk factors are more common among racial and ethnic minority populations as a result of racism. Researchers too often pursue genetic explanations for racial and ethnic AD disparities when the evidence points to the importance of contextual, rather than genetic, causes of these disparities. Reframing the prevailing view that innate differences among racial and ethnic groups are responsible for these disparities by emphasizing the role of racism and its downstream effects on contextual factors will be a critical first step toward shrinking these disparities.

Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database.

BACKGROUND/OBJECTIVES: Patients with epidermolysis bullosa (EB) require care of wounds that are colonized or infected with bacteria. A subset of EB patients are at risk for squamous cell carcinoma, and bacterial-host interactions have been considered in this risk. The EB Clinical Characterization and Outcomes Database serves as a repository of information from EB patients at multiple centers in the United States and Canada. Access to this resource enabled broad-scale analysis of wound cultures. METHODS: A retrospective analysis of 739 wound cultures from 158 patients from 13 centers between 2001 and 2018. RESULTS: Of 152 patients with a positive culture, Staphylococcus aureus (SA) was recovered from 131 patients (86%), Pseudomonas aeruginosa (PA) from 56 (37%), and Streptococcus pyogenes (GAS) from 34 (22%). Sixty-eight percent of patients had cultures positive for methicillin-sensitive SA, and 47%, methicillin-resistant SA (18 patients had cultures that grew both methicillin-susceptible and methicillin-resistant SA at different points in time). Of 15 patients with SA-positive cultures with recorded mupirocin susceptibility testing, 11 had mupirocin-susceptible SA and 6 patients mupirocin-resistant SA (2 patients grew both mupirocin-susceptible and mupirocin-resistant SA). SCC was reported in 23 patients in the entire database, of whom 10 had documented wound cultures positive for SA, PA, and Proteus species in 90%, 50%, and 20% of cases, respectively. CONCLUSIONS: SA and PA were the most commonly isolated bacteria from wounds. Methicillin resistance and mupirocin resistance were reported in 47% and 40% of patients tested, respectively, highlighting the importance of ongoing antimicrobial strategies to limit antibiotic resistance.

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally, potential psychiatric and cardiovascular effects need to be considered. Contraceptive concerns, as well as the additive cardiovascular and bone effects of systemic retinoid use with hormonal contraception must also be deliberated for patients of childbearing potential. The Pediatric Dermatology Research Alliance (PeDRA) Use of Retinoids in Ichthyosis Work Group was formed to address these issues and to establish best practices regarding the use of retinoids in ichthyoses based on available evidence and expert opinion.

Off-label use of dupilumab for pediatric patients with atopic dermatitis: A multicenter retrospective review.

BACKGROUND: Atopic dermatitis (AD) is a common, chronic type 2 inflammatory skin disease, typically starting in infancy, with increased risk for subsequent extracutaneous atopic morbidities. Dupilumab is the first biologic agent targeting type 2 inflammation approved by the U.S. Food and Drug Administration (USFDA); it was licensed in 2017 for adults with moderate to severe AD and 2 years later for adolescents. Systemic treatment for pediatric AD remains a significant unmet medical need. OBJECTIVE: To analyze off-label use of dupilumab in children with AD. METHODS: Multicenter retrospective review that evaluated children who were prescribed dupilumab for moderate to severe AD. RESULTS: One hundred eleven of 124 patients (89.5%) gained access to dupilumab after a mean of 9 weeks. The dosing range was 4 to 15.5 mg/kg for the loading dose and 2.0 to 15.3 mg/kg every other week for maintenance. The range was widest for 6- to 11-year-olds and was related to use of either full or half of adult dosing. Associated morbidities, treatment response, and adverse events were comparable to those in previous adolescent and adult trials. LIMITATIONS: The retrospective design of the study limited uniform data collection. CONCLUSION: Access to dupilumab was achievable for the majority of children after a mean 9-week delay because of insurance payment denial. This review supports dupilumab response and tolerability in children. Optimal dosing for patients younger than 12 years has not been defined. Availability of the drug in 2 different concentrations is an important safety issue.

Skin cleansing and topical product use in patients with epidermolysis bullosa: Results from a multicenter database.

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.

Management of a neonate with diffuse cutaneous mastocytosis: Case report and literature review.

Mastocytosis is an accumulation of clonal mast cells within tissues, commonly caused by mutations in the KIT proto-oncogene. This report describes the management of a neonate with diffuse cutaneous mastocytosis (DCM) caused by a rare activating KIT mutation, specifically internal tandem duplication of the Ala502Tyr503 pair on exon 9, and reviews current data regarding work-up of DCM in pediatric patients.

Use of psychologic strategies to reduce pain and anxiety related to dermatology procedures.

The fear of painful procedures is at an increased incidence within the pediatric population. This can be an extremely challenging obstacle in dermatology where injections, blood draws, and cryotherapy are often required during the care of patients. Psychologic techniques based on cognitive behavioral therapy (CBT) can be implemented leading up to and while performing these procedures to help reduce patient anxiety.

Efficacy and patient opinion of wet-wrap dressings using 0.1% triamcinolone acetonide ointment vs cream in the treatment of pediatric atopic dermatitis: A randomized split-body control study.

BACKGROUND: Wet wraps can be an effective means of improving atopic dermatitis (AD). Little research has been done regarding the comparative efficacy of topical steroid vehicles and patient preference. OBJECTIVE: This study aimed to compare the efficacy of 0.1% triamcinolone acetonide ointment vs cream used with wet wraps in pediatric patients with AD and to explore patient preference/opinion. METHODS: We performed a small, randomized, investigator-blind prospective study of 39 pediatric patients experiencing symmetric, bilateral AD flares. Patients were instructed to apply a topical steroid cream to one extremity and apply the same topical steroid in an ointment vehicle to the other extremity using the wet-wrap technique once or twice daily for 3 to 5 consecutive days. Patients were evaluated at a follow-up visit. RESULTS: Comparison of the change in Investigator's Global Assessment scores disclosed no significant difference between efficacy ratings of cream (mean difference = 0.72) and ointment (mean difference = 0.59) when used with wet wraps (P = 0.22). Although patients found the ointment more difficult to apply, they were more likely to prefer ointments for future prescriptions (P < 0.01). CONCLUSION: Patient preference of corticosteroid vehicle is what should ultimately drive treatment. In this small study, we found no difference in efficacy between triamcinolone acetonide wet wraps with cream vs ointment. Dermatologists should select the vehicle of the patient's choice as it may increase satisfaction with treatment.

Caring for Pediatric Patients With Epidermolysis Bullosa in the Emergency Department.

Epidermolysis bullosa (EB) refers to a heterogeneous group of genetic disorders characterized by epithelial fragility. We provide guidelines for management of pediatric patients with EB in the emergency department based on a review of literature, as well as insights from our own experiences caring for patients with EB. The purpose of the guidelines proposed is prevention of avoidable iatrogenic trauma to the skin and mucosa of patients with EB who are presenting to the emergency department for a variety of reasons.

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.

Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper-immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes.