Pediatric consultative dermatology: A survey of the Society for Pediatric Dermatology workforce reveals shortcomings in existing practice models of pediatric dermatology consult services in the United States.

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.

Poliosis, hair pigment dilution, and premature graying of the hair: A diagnostic approach in pediatric patients and review of the literature.

Poliosis is defined as the absence of melanin in hair, and hair graying typically occurs with hair melanin reduction. Poliosis can occur at any age but presents in childhood in certain genetic and acquired conditions, with many families seeking evaluation from a pediatric dermatologist. Poliosis presents as white hair typically restricted to a certain location of the scalp. Children may also present with a reduction of expected hair pigmentation, referred to as pigment dilution, or the development of hair graying. This review aims to provide a streamlined diagnostic approach for pediatric dermatologists when presented with these hair findings. Poliosis should be recognized as a potential diagnostic feature or initial sign in many syndromes and thus can guide clinicians in diagnosing and managing conditions earlier in a patient's care. Since many of the genetic and acquired conditions that present with poliosis or hair pigment dilution have extracutaneous manifestations, early diagnosis is vital in establishing multidisciplinary care.

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype-phenotype associations and guide medical therapy in individuals with vascular anomalies.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

BACKGROUND/OBJECTIVES: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g., age, disease severity, and percent of body surface area (BSA) involved). METHODS: Patients with EB ages 8-16 and their parents/guardians who were English or Spanish speaking completed a one-time online survey. Parent measures included: demographics questionnaire, Pain Catastrophizing Scale-Parent (PCS), and Parent Functional Disability Inventory (FDI). Child measures included: PCS child and child FDI. Higher scores on both scales indicate higher levels of catastrophizing and functional disability. RESULTS: Of 31 children, the mean age was 11.47 years and the majority (70.97%) had dystrophic EB. Mean scores were: 35.84 = PCS parent; 34.58 = PCS child; 30.87 = parent FDI; 29.77 = child FDI. Total scores for PCS parent, parent FDI, and child FDI increased significantly with disease severity and percentage of involved BSA (p < .01 for all). Total scores for PCS child increased significantly with percent of EB skin involvement (p = .04) but not disease severity. Older children reported more functional disability than their parents and younger children (p = .02). CONCLUSIONS: Our results demonstrate significant positive correlations between negative thoughts related to pain and the experience of functional difficulties in patients with EB and their caregivers. Psychological, psychiatric, and/or behavioral interventions to help managing chronic pain may be effective for patients with EB.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the range of clinical phenotypes owing to disruptions of CTNNB1 to determine the association between NEDSDV and CP. METHODS: Genetic information from 404 individuals with collectively 392 pathogenic CTNNB1 variants were ascertained for the study. From these, detailed phenotypes for 52 previously unpublished individuals were collected and combined with 68 previously published individuals with comparable clinical information. The functional effects of selected CTNNB1 missense variants were assessed using TOPFlash assay. RESULTS: The phenotypes associated with pathogenic CTNNB1 variants were similar. A diagnosis of CP was not significantly associated with any set of traits that defined a specific phenotypic subgroup, indicating that CP is not additional to NEDSDV. Two CTNNB1 missense variants were dominant negative regulators of WNT signaling, highlighting the utility of the TOPFlash assay to functionally assess variants. CONCLUSION: NEDSDV is a clinically homogeneous disorder irrespective of initial clinical diagnoses, including CP, or entry points for genetic testing.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

BACKGROUND AND OBJECTIVES: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmorphology physical examination. We studied the clinical effectiveness of telemedicine for patients with suspected or confirmed genetic conditions. METHODS: We conducted a retrospective cohort study of outpatient encounters before and after the widespread implementation of telemedicine (N = 5854). Visit types, diagnoses, patient demographic characteristics, and laboratory data were acquired from the electronic health record. Patient satisfaction was assessed through survey responses. New molecular diagnosis was the primary end point. RESULTS: Patients seen by telemedicine were more likely to report non-Hispanic White ancestry, prefer to speak English, live in zip codes with higher median incomes, and have commercial insurance (all P < .01). Genetic testing was recommended for more patients evaluated by telemedicine than in person (79.5% vs 70.9%; P < .001). Patients seen in person were more likely to have a sample collected, resulting in similar test completion rates (telemedicine, 51.2%; in person, 55.1%; P = .09). There was no significant difference in molecular diagnosis rate between visit modalities (telemedicine, 13.8%; in person, 12.4%; P = .40). CONCLUSIONS: Telemedicine and traditional in-person evaluation resulted in similar molecular diagnosis rates. However, improved methodologies for remote sample collection may be required. This study reveals the feasibility of telemedicine in a large academic medical genetics practice and is applicable to other pediatric specialties with perceived importance of physical examination.

Understanding the Gut Microbiota in Pediatric Patients with Alopecia Areata and their Siblings: A Pilot Study.

A cross-sectional study of 41 children aged 4-17 years with alopecia areata and 41 of their siblings without alopecia areata was conducted. A total of 51% had the Severity of Alopecia Tool scores in the range of 0-25%, 12% had scores between 26% and 49%, and 36% had scores between 75% and 100%. The fecal microbiome was characterized using shotgun metagenomic sequencing. A comparison of alpha and beta diversity yielded a small but statistically significant difference on the basis of Jaccard distance, which measures species presence and absence between samples. However, a follow-up analysis did not reveal the particular species that were present more often in one group. The relative abundance of one species, Ruminococcus bicirculans, was decreased in patients with alopecia areata relative to that in their sibling controls. An analysis of gene ortholog abundance identified 20 orthologs that were different between groups, including spore germination genes and genes for metal transportation. The associations reported in this study support a view of pediatric alopecia areata as a systemic disease that has effects on hair but also leads to internal changes, including differences in the gut microbiome.

Experience using dupilumab for pediatric atopic dermatitis at a tertiary care c enter: Inadequate response and adverse events.

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.

Acral Changes in pediatric patients during COVID 19 pandemic: Registry report from the COVID 19 response task force of the society of pediatric dermatology (SPD) and pediatric dermatology research alliance (PeDRA).

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.

Trichotillomania in Children and the Different Approaches between Dermatological and Behavioral Health Professionals at an Urban Tertiary Care Center.

BACKGROUND: Trichotillomania (TTM) is a complex disease with varying clinical characteristics, and psychosocial impairment is noted in many TTM patients. Despite its prevalence in childhood, there is limited research on pediatric TTM. OBJECTIVE: To analyze the clinical and epidemiologic features of TTM in children evaluated by dermatologists and behavioral health specialists. METHOD: We performed a retrospective chart review of 137 pediatric patients seen at the Children's Hospital of Philadelphia with initial presentation of TTM at age 17 or younger. Patients were treated by dermatology or behavioral health. RESULTS: The majority of the patients were females, with an average diagnosis age around 8 years. Over half had a psychiatric comorbidity, and over a quarter had a skin disorder. Skin disorders were more commonly present in those evaluated by dermatology, and psychiatric comorbidities were more commonly present in those evaluated by behavioral health. The most common form of treatment was behavioral therapy, with medications prescribed more often by dermatologists. CONCLUSIONS: TTM patients choose to present to behavioral health or dermatology; however, there are distinctive differences between the two cohorts. With behavioral and pharmacologic treatment options, a relationship between dermatologists and behavioral health specialists is necessary for multifactorial management of TTM.

Genetic skin disorders: The value of a multidisciplinary clinic.

Genodermatoses are inherited disorders with skin manifestations and can present with multisystem involvement, resulting in challenges in diagnosis and treatment. To address this, the expertise of dermatology and clinical genetics through a multidisciplinary clinic (Genodermatoses Clinic) were combined. A retrospective cohort study of 45 children seen between March 2018 and February 2019 in the Genodermatoses Clinic at The Children's Hospital of Philadelphia was performed. Patient demographics, referral information, genetic testing modality, diagnoses, and patient satisfaction scores were evaluated to assess the clinic's impact. The majority of patients (42.2%) were referred from Dermatology and 86.7% were referred for diagnosis. Two-thirds of the patients were recommended genetic testing, and subsequently 73.3% completed testing. Nearly three-quarters, 26 out of 36 patients (72.2%), of our undiagnosed patients received a clinical and/or molecular diagnosis, which is imperative in managing their care. Twenty-two individuals pursued genetic testing. In eight individuals (36%), molecular testing was diagnostic. However, in two individuals the molecular diagnosis did not completely explain the phenotype. However, there are still obstacles to genetic testing, such as cost of testing and insurance barriers. Almost all (91.4%) rated the Genodermatoses Clinic as "Very Good," the top Press Ganey score. High patient satisfaction scores suggest a positive impact of the Genodermatoses clinic, emphasizing the importance to increase support for the clinical and administrative time needed for patients with genodermatoses.

Childhood vitiligo impacts emotional health of parents: a prospective, cross-sectional study of quality of life for primary caregivers.

BACKGROUND/OBJECTIVES: Individuals with vitiligo have an increased risk of depression, anxiety, social isolation and detrimental effects on body image/self-esteem. However, assessments of quality of life (QoL) impact have not focused on caregivers of children with vitiligo. To address this, we determined the QoL impact in parents of children with vitiligo to assess the relationship between QoL parameters and disease duration, location, and severity. METHODS: We performed a cross-sectional study involving 123 parents of children diagnosed with vitiligo for at least 3 months, and who presented to the pediatric dermatology clinic of a major United States children's hospital. Parents completed a demographics survey, Quality of Life in a Child's Chronic Disease Questionnaire (QLCCDQ) and Family Dermatology Life Quality Index (FDLQI) to assess QoL measures. The lower the QLCCDQ score and higher the FLDQI score, the more quality of life is impaired. RESULTS: Subject age ranged from 20 to 57, and 13.9% received mental health intervention. QLCCDQ emotional domain scores were most impaired, and severity and location of disease impacted these scores. FDLQI scores decreased as children age, indicating overall parent wellbeing increased as children age. CONCLUSIONS: Childhood vitiligo has great emotional impact on the quality of life of caregivers. Recognizing this will enable dermatologist who primarily care for these patients to incorporate care giver specific interventions during clinical visits. Emotional domain scores for parents of children with vitiligo were the most impaired as much or more than of those seen in parents of children with chronic stable medical disease such as type 1 diabetes and asthma.

Understanding alopecia areata characteristics in children under the age of 4 years.

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 <4 years of age was performed in order to identify the prognostic factors for disease progression. METHODS: We performed a retrospective chart review of 125 pediatric patients seen at the Children's Hospital of Philadelphia with an initial presentation of AA under the age of 4. Disease severity was measured using the Severity of Alopecia Tool (SALT) score at initial presentation, 3-6 months later, 1 year later, and then at 2 years. RESULTS: Initial presentation was most common between ages 2 and 4 years. Most children had mild disease severity and continued mild disease over the next 2 years. Children with more than 50% of hair loss at presentation were much more likely to have worsening SALT scores over time and remain more severe. Approximately 41% had concomitant atopic dermatitis, 28% had a family member with AA, and 27% had a first-degree family member with one or more autoimmune diseases. CONCLUSIONS: In a diverse patient population, most children with AA even when presenting under age 4 have mild disease (<50% hair loss on scalp). Those who present with more severe disease are more likely to worsen or remain severe over time. These findings can aid family counseling and education.