Publications by authors named "Leslie Castelo-Soccio"

96 Publications

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

Skin Appendage Disord 2021 Jan 26;7(1):1-7. Epub 2020 Oct 26.

Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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.
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http://dx.doi.org/10.1159/000510524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879314PMC
January 2021

Genetic skin disorders: The value of a multidisciplinary clinic.

Am J Med Genet A 2021 Jan 27. Epub 2021 Jan 27.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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.
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http://dx.doi.org/10.1002/ajmg.a.62095DOI Listing
January 2021

Dupilumab Therapy for Alopecia Areata in Pediatric Patients with Concomitant Atopic Dermatitis.

J Am Acad Dermatol 2021 Jan 20. Epub 2021 Jan 20.

Division of Pediatrics, Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2021.01.046DOI Listing
January 2021

New-onset head and neck dermatitis in adolescent patients after dupilumab therapy for atopic dermatitis.

Pediatr Dermatol 2021 Jan 10. Epub 2021 Jan 10.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Background/objectives: Head and neck dermatitis after dupilumab therapy for atopic dermatitis has been frequently reported in adults and only rarely in adolescents. No cases detailing disease course and treatment response have previously been described in adolescents.

Methods/results: This case series presents five adolescent patients who developed new-onset or worsening head and neck dermatitis after dupilumab therapy for atopic dermatitis. All five patients improved after oral antifungal therapy.

Conclusions: The clinical features, treatment response, and potential disease pathogenesis in pediatric patients are described. Adolescents with new-onset head and neck dermatitis after dupilumab therapy may clinically improve with antifungal therapy, suggesting that Malassezia species may be a contributing factor or antifungal therapy may be an effective antiinflammatory agent.
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http://dx.doi.org/10.1111/pde.14499DOI Listing
January 2021

Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice.

Pediatr Dermatol 2021 Jan 23;38(1):137-142. Epub 2020 Nov 23.

Division of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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.
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http://dx.doi.org/10.1111/pde.14460DOI Listing
January 2021

Effects of a pilot educational intervention on perceptions of visible skin diseases in the pediatric population.

J Am Acad Dermatol 2020 Oct 28. Epub 2020 Oct 28.

Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2020.10.068DOI Listing
October 2020

Retrospective analysis of the histopathologic features of basal cell carcinomas in pediatric patients with basal cell nevus syndrome.

J Cutan Pathol 2021 Mar 17;48(3):390-395. Epub 2020 Nov 17.

Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Basal cell nevus syndrome (BCNS) is an autosomal dominant condition caused most often by a loss-of-function mutation in the Patched-1 (PTCH1) gene. It is characterized by the development of varied benign and malignant tumors, including numerous cutaneous basal cell carcinomas (BCCs). The PTCH1 gene is integral in hair follicle development and loss of function mutation may lead to BCCs with an infundibulocystic histopathology in BCNS patients. Few studies have described the histopathological features of BCCs in BCNS. The recognition of these histopathologic features by dermatologists, dermatopathologists, and others caring for children will allow earlier and more effective identification of BCNS. We performed a retrospective analysis of 25 BCCs in 11 patients aged 5 to 19 years with BCNS and evaluated the histopathologic features on hematoxylin-eosin-stained sections. Our study found that 80% of BCCs in BCNS patients occurred on the head and neck with 64% of the specimens demonstrating infundibulocystic differentiation. Infundibulocystic differentiation is a common finding in BCCs found in BCNS. The finding of cutaneous neoplasms consistent with BCC with infundibulocystic differentiation in children is common in pediatric patients with BCNS and can be considered to be an early marker of the disorder, prompting further clinical investigation.
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http://dx.doi.org/10.1111/cup.13899DOI Listing
March 2021

Photographing Alopecia: How Many Pixels Are Needed for Clinical Evaluation?

J Digit Imaging 2020 12 2;33(6):1404-1409. Epub 2020 Oct 2.

Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Determining the minimum image resolution needed for clinical assessment is crucial for computational efficiency, image standardization, and storage needs alleviation. In this paper, we explore the image resolution requirements for the assessment of alopecia by analyzing how clinicians detect the presence of characteristics needed to quantify the disorder in the clinic. By setting the image resolution as a function of width of the patient's head, we mimicked experiments conducted in the computer vision field to understand human perception in the context of scene recognition and object detection and asked 6 clinicians to identify the regions of interest on a set of retrospectively collected de-identified images at different resolutions. The experts were able to detect the presence of alopecia at very low resolutions, while significantly higher resolution was required to identify the presence of vellus-like hair. Furthermore, the accuracy with which alopecia was detected as a function of resolution followed the same trend as the one obtained when we classified normal versus abnormal hair density using a standard neural network architecture, hinting that the resolution needed by an expert human observer may also provide an upper bound for future image processing algorithms.
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http://dx.doi.org/10.1007/s10278-020-00389-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728962PMC
December 2020

Multiple indurated plaques and a blister in a newborn.

Pediatr Dermatol 2020 07;37(4):e46-e48

Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/pde.14204DOI Listing
July 2020

International collaboration and rapid harmonization across dermatologic COVID-19 registries.

J Am Acad Dermatol 2020 09 17;83(3):e261-e266. Epub 2020 Jun 17.

Unit for Population-Based Dermatology Research, St John's Institute of Dermatology, King's College London and Guy's & St Thomas' National Health Service Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2020.06.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7833847PMC
September 2020

Systemic immunosuppressive therapy for inflammatory skin diseases in children: Expert consensus-based guidance for clinical decision-making during the COVID-19 pandemic.

Pediatr Dermatol 2020 May 16;37(3):424-434. Epub 2020 May 16.

Department of Dermatology, University of California San Francisco School of Medicine, San Francisco, California, USA.

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.
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http://dx.doi.org/10.1111/pde.14202DOI Listing
May 2020

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

J Patient Rep Outcomes 2020 Mar 20;4(1):20. Epub 2020 Mar 20.

Department of Pediatrics, Section of Dermatology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Wood Center 3335, Philadelphia, PA, 19104, USA.

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.
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http://dx.doi.org/10.1186/s41687-020-0186-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082438PMC
March 2020

Retrospective review of drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis cases at a pediatric tertiary care institution.

Pediatr Dermatol 2020 May 14;37(3):461-466. Epub 2020 Feb 14.

Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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.
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http://dx.doi.org/10.1111/pde.14118DOI Listing
May 2020

Development and Initial Validation of a Multidimensional Acne Global Grading System Integrating Primary Lesions and Secondary Changes.

JAMA Dermatol 2020 03;156(3):296-302

Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

Importance: The qualitative grading of acne is important for routine clinical care and clinical trials, and although many useful systems exist, no single acne global grading system has had universal acceptance. In addition, many current instruments focus primarily on evaluating primary lesions (eg, comedones, papules, and nodules) or exclusively on signs of secondary change (eg, postinflammatory hyperpigmentation, scarring).

Objectives: To develop and validate an acne global grading system that provides a comprehensive evaluation of primary lesions and secondary changes due to acne.

Design, Setting, And Participants: This diagnostic study created a multidimensional acne severity feature space by analyzing decision patterns of pediatric dermatologists evaluating acne. Modeling acne severity patterns based on visual image features was then performed to reduce dimensionality of the feature space to a novel 2-dimensional grading system, in which severity levels are functions of multidimensional acne cues. The system was validated by 6 clinicians on a new set of images. All images used in this study were taken from a retrospective, longitudinal data set of 150 patients diagnosed with acne, ranging across the entire pediatric population (aged 0-21 years), excluding images with any disagreement on their diagnosis, and selected to adequately span the range of acne types encountered in the clinic. Data were collected from July 1, 2001, through June 30, 2013, and analyzed from March 1, 2015, through December 31, 2016.

Main Outcomes And Measures: Prediction performance was evaluated as the mean square error (MSE) with the clinicians' scores.

Results: The scale was constructed using acne visual features and treatment decisions of 6 pediatric dermatologists evaluating 145 images of patients with acne ranging in age from 0 to 21 years. Using the proposed scale to predict the severity scores on a new set of 40 images achieved an overall MSE of 0.821, which is smaller than the mean within-clinician differences (MSE of 0.998).

Conclusions And Relevance: By integrating primary lesions and secondary changes, this novel acne global grading scale provides a more clinically relevant evaluation of acne that may be used for routine clinical care and clinical trials. Because the severity scores are based on actual clinical practice, this scoring system is also highly correlated with appropriate treatment choices.
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http://dx.doi.org/10.1001/jamadermatol.2019.4668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990806PMC
March 2020

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

Am J Med Genet A 2020 04 21;182(4):746-754. Epub 2020 Jan 21.

Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Nevus comedonicus syndrome (NCS) is a rare epidermal nevus syndrome characterized by ocular, skeletal, and central nervous system anomalies. We present a 23-month-old boy with a history of a congenital pulmonary airway malformation (CPAM) of the lung and a congenital cataract who developed progressive linear and curvilinear plaques of dilated follicular openings with keratin plugs (comedones) on parts of his scalp, face, and body consistent with nevus comedonicus. MRI of the brain demonstrated an aneurysm of the right internal carotid artery. Genetic testing identified NEK9 c.1755_1757del (p.Thr586del) at mean allele frequency of 28% in the nevus comedonicus. This same mutation was present in the CPAM tissue. This is the first case of a CPAM in a patient with an epidermal nevus syndrome. This case expands the phenotype of nevus comedonicus syndrome to include CPAM and vascular anomalies.
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http://dx.doi.org/10.1002/ajmg.a.61490DOI Listing
April 2020

Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.

Pediatr Dermatol 2020 Mar 19;37(2):272-277. Epub 2020 Jan 19.

Division of Pediatric Dermatology, University of Minnesota, Minneapolis, Minnesota.

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.
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http://dx.doi.org/10.1111/pde.14104DOI Listing
March 2020

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

Pediatr Dermatol 2020 Mar 15;37(2):326-332. Epub 2020 Jan 15.

Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.

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.
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http://dx.doi.org/10.1111/pde.14102DOI Listing
March 2020

Acquired port-wine stains in six pediatric patients.

Pediatr Dermatol 2020 Jan 20;37(1):93-97. Epub 2019 Oct 20.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Background/objectives: Port-wine stains, also known as capillary malformations, are due to dermal vascular ectasia and dilation and are most commonly congenital; however, acquired port-wine stains (APWS) developing later in life have been noted in the literature, most commonly in the context of trauma.

Methods/results: This case series presents 6 pediatric patients with APWS who first developed lesions between ages 3 and 11 years in the absence of a traumatic or other etiologic trigger.

Conclusions: The epidemiology, clinical features, and treatment response of these patients are compared to what has been previously described in other cases in the literature.
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http://dx.doi.org/10.1111/pde.14019DOI Listing
January 2020

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

J Am Acad Dermatol 2020 Feb 10;82(2):407-411. Epub 2019 Oct 10.

Saint Louis University, Department of Dermatology, St. Louis, Missouri.

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.
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http://dx.doi.org/10.1016/j.jaad.2019.10.010DOI Listing
February 2020

Stripping Away Barriers to Find Relevant Skin Biomarkers for Pediatric Atopic Dermatitis.

JAMA Dermatol 2019 Oct 9. Epub 2019 Oct 9.

Department of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2019.2792DOI Listing
October 2019

Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.

Pediatr Dermatol 2019 Nov 3;36(6):1007-1009. Epub 2019 Oct 3.

Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.
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http://dx.doi.org/10.1111/pde.13965DOI Listing
November 2019

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

Pediatr Dermatol 2019 Nov 29;36(6):854-858. Epub 2019 Aug 29.

Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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.
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http://dx.doi.org/10.1111/pde.13990DOI Listing
November 2019

Association of the Severity of Alopecia With the Severity of Ichthyosis.

JAMA Dermatol 2019 Jul 31. Epub 2019 Jul 31.

Section of Dermatology, Division of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2019.1520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669775PMC
July 2019

How to recognize and approach psychiatric and psychosocial impairments in the pediatric dermatology patient with a primary dermatologic disease.

Pediatr Dermatol 2019 Sep 12;36(5):759-763. Epub 2019 Jul 12.

Division of Pediatrics, Section of Dermatology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perlman School of Medicine, Philadelphia, Pennsylvania.

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.
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http://dx.doi.org/10.1111/pde.13891DOI Listing
September 2019

Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature.

J Cutan Pathol 2019 Dec 22;46(12):954-959. Epub 2019 Jul 22.

Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

The epithelioid blue nevus (EBN) is a variant of the blue nevus characterized by heavily pigmented epithelioid melanocytes and lightly or nonpigmented spindle cells. It may be associated with Carney complex, a multiple neoplasia syndrome. Congenital cases of EBN not associated with Carney complex are rarely reported. We herein describe an infant who presented with multiple blue-gray nodules and papules involving the head, trunk, and extremities at birth, the corresponding histopathologic findings, and genetic testing results.
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http://dx.doi.org/10.1111/cup.13544DOI Listing
December 2019

Tumor necrosis factor-α inhibitor-induced psoriasis in juvenile idiopathic arthritis patients.

Pediatr Dermatol 2019 Sep 25;36(5):613-617. Epub 2019 Jun 25.

Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Background/objectives: The development of psoriasis while on tumor necrosis factor inhibitors (TNFi) is a paradoxical effect of agents that treat psoriasis. There is a paucity of data available on this entity in juvenile idiopathic arthritis (JIA). Our objectives were to determine the prevalence of TNFi-induced psoriasis in patients with JIA at two pediatric centers, and psoriasis response to therapeutic modifications.

Methods: We performed retrospective chart review on patients with JIA treated with TNFi (adalimumab, etanercept, infliximab) who developed psoriasis. TNFi-induced psoriasis was defined as an incident diagnosis of psoriasis after starting a TNFi. Patients with personal histories of psoriasis prior to TNFi therapy were excluded. Following diagnosis, responses to medication changes were defined based on physician assessments.

Results: Nine of 166 (5.4%) patients on TNFi for JIA were diagnosed with TNFi-induced psoriasis. All cases were female. One had a family history of psoriasis. The median age was 10 (range 2-16) years. Five (55%) patients experienced scalp psoriasis, including four (44%) with alopecia. Two (22%) patients achieved significant improvement after switching to different classes of biologic agents, while three (33%) patients had significant improvement following discontinuation of biologic therapy. One of five patients who switched to a different TNFi had complete resolution, while four had worsening symptoms or partial improvement.

Conclusions: Our findings demonstrate the prevalence of TNFi-induced psoriasis in JIA at two centers. Though larger studies are needed, our data suggest discontinuation of TNFi or biologic class switching should be considered as treatment strategies in select patients.
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http://dx.doi.org/10.1111/pde.13859DOI Listing
September 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 04 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

Single-cell gene expression analyses of mammalian tissues have uncovered profound stage-specific molecular regulatory phenomena that have changed the understanding of unique cell types and signaling pathways critical for lineage determination, morphogenesis, and growth. We discuss here the case for a Pediatric Cell Atlas as part of the Human Cell Atlas consortium to provide single-cell profiles and spatial characterization of gene expression across human tissues and organs. Such data will complement adult and developmentally focused HCA projects to provide a rich cytogenomic framework for understanding not only pediatric health and disease but also environmental and genetic impacts across the human lifespan.
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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

Treatment of severe pediatric atopic dermatitis with methotrexate: A retrospective review.

Pediatr Dermatol 2019 May 27;36(3):298-302. Epub 2019 Feb 27.

Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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.
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http://dx.doi.org/10.1111/pde.13781DOI Listing
May 2019

Severity of disease and quality of life in parents of children with alopecia areata, totalis, and universalis: A prospective, cross-sectional study.

J Am Acad Dermatol 2019 May 8;80(5):1389-1394. Epub 2019 Jan 8.

Division of Pediatrics, Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Electronic address:

Background: Caregiver-oriented quality of life (QoL) research in alopecia areata is limited. No study has used a parent-tailored survey to examine the relationship between QoL and severity of alopecia as measured by Severity of Alopecia Tool (SALT) scores.

Objectives: This is a prospective study that describes QoL in parents of pediatric patients with all subtypes of alopecia areata and investigates the relationship between QoL and severity of disease, duration of disease, and age of patients.

Methods: Pediatric patients and their parents were invited to participate during clinic visits. Participating parents completed the Quality of Life in a Child's Chronic Disease Questionnaire (QLCCDQ) and the Family Dermatology Life Quality Index (FDLQI). A subset of children completed the Children's Dermatologic Life Quality Index (CDLQI). SALT scores at time of survey completion were recorded.

Results: In total, 153 patients were included. Significant mild-to-moderate negative correlations were found between SALT scores and FDLQI scores, QLCCDQ scores, and QLCCDQ emotional domain scores. Age of child correlated negatively with QLCCDQ scores but not FDLQI scores. No significant correlation was found between duration of disease and FDLQI scores, QLCCDQ scores, or QLCCDQ emotional domain scores.

Limitations: This study is limited by its small sample size and cross-sectional design.

Conclusions: Impaired parent QoL might be associated with increasing severity of disease and age of affected child but not duration of disease. Providers should tailor counseling accordingly and help parents set realistic expectations for long-term experience with the disease.
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http://dx.doi.org/10.1016/j.jaad.2018.12.051DOI Listing
May 2019

Transverse melanonychia in a child receiving chemotherapy.

Pediatr Dermatol 2019 Jan 12;36(1):e60-e61. Epub 2018 Dec 12.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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.
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http://dx.doi.org/10.1111/pde.13721DOI Listing
January 2019