94 results on '"Hawryluk EB"'
Search Results
2. Dermatologic Conditions in Down Syndrome: A Multi-Site Retrospective Review of International Classification of Diseases Codes.
- Author
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Rakasiwi T, Ryan C, Stein A, Vu A, Dykman M, Shah I, Reilly C, Brokamp G, Mologousis MA, Komishke B, Hou V, Maguiness S, Kirkorian AY, Price H, Hawryluk EB, Fernandez Faith E, Lara-Corrales I, Gurnee E, Holland KE, and Rork JF
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- Humans, Retrospective Studies, Adolescent, Child, Male, Female, Child, Preschool, Adult, Infant, Young Adult, International Classification of Diseases, United States epidemiology, Canada epidemiology, Infant, Newborn, Down Syndrome complications, Down Syndrome epidemiology, Skin Diseases epidemiology
- Abstract
Background and Objective: As the population and life expectancy of people with Down syndrome increases, identifying common skin conditions throughout the lifespan will help inform clinical care and research. We sought to evaluate dermatologic conditions diagnosed in pediatric and adult patients with Down syndrome., Methods: This multicenter retrospective study analyzed demographic and outpatient visit International Classification of Diseases codes of patients with Down syndrome evaluated at outpatient dermatology clinics in the United States or Canada between 2011 and 2021., Results: A total of 1529 patients with Down syndrome were identified from eight academic medical centers: 50.8% were children (0-12 years), 25.2% were adolescents (13-17 years), and 24% were adults (18 years and older). Eczematous dermatitis was the most common diagnosis overall (26%), followed by folliculitis (19.3%) and seborrheic dermatitis (15.6%). Other notable diagnoses included dermatophyte infections (13%), alopecia areata (11.6%), and psoriasis (6.7%). About 4.3% of visits included a code for high-risk medication use. Eczematous dermatitis, alopecia areata, and folliculitis were the most common diagnoses observed in children; folliculitis, hidradenitis suppurativa, and eczematous dermatitis in adolescents; and seborrheic dermatitis, eczematous dermatitis, and folliculitis in adults., Conclusions: Dermatologic conditions in patients with Down syndrome vary by age, but are most often eczematous, adnexal, and cutaneous autoimmune disorders. This multicenter retrospective review identifies skin diseases that should be prioritized for clinical care guideline development and research in the Down syndrome community., (© 2024 Wiley Periodicals LLC.)
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- 2024
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3. Comparative safety of oral Janus kinase inhibitors versus dupilumab in patients with atopic dermatitis: A population-based cohort study.
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Tsai SY, Phipatanakul W, Hawryluk EB, Oyoshi MK, Schneider LC, and Ma KS
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- Humans, Male, Female, Adult, Middle Aged, Administration, Oral, Cohort Studies, Pyrazoles therapeutic use, Pyrazoles adverse effects, Pyrimidines therapeutic use, Pyrimidines adverse effects, Pyrimidines administration & dosage, Adolescent, Sulfonamides adverse effects, Sulfonamides therapeutic use, Sulfonamides administration & dosage, Young Adult, Bridged Bicyclo Compounds, Heterocyclic therapeutic use, Bridged Bicyclo Compounds, Heterocyclic adverse effects, Heterocyclic Compounds, 3-Ring, Purines, Dermatitis, Atopic drug therapy, Antibodies, Monoclonal, Humanized therapeutic use, Antibodies, Monoclonal, Humanized adverse effects, Antibodies, Monoclonal, Humanized administration & dosage, Janus Kinase Inhibitors therapeutic use, Janus Kinase Inhibitors adverse effects, Azetidines adverse effects, Azetidines therapeutic use, Azetidines administration & dosage
- Abstract
Background: Systemic Janus kinase inhibitors (JAKi) and dupilumab both have emerged as promising therapeutics for atopic dermatitis (AD). Dupilumab has a favorable safety profile, but oral JAKi therapy has been established in other diseases that carry potential comorbid susceptibilities that influence safety., Objective: We sought to provide real-world evidence of the comparative safety of oral JAKi versus dupilumab in patients with AD., Methods: The study used observational data from multiple healthcare organizations in the US. Patients with AD treated with either oral JAKi (upadacitinib, abrocitinib, and baricitinib) or dupilumab were enrolled. The 2 treatment groups were propensity score matched 1:1 on the basis of demographics, comorbidities, and prior medications. Safety outcomes within 2 years after the initiation of medications were measured by hazard ratios (HRs) with 95% confidence intervals (CIs)., Results: A total of 14,716 patients were included, with 942 patients treated with oral JAKi and 13,774 with dupilumab. The 2 treatment groups respectively included 938 patients after matching. Treatment with oral JAKi was not associated with increased risks of mortality, malignancies, major adverse cardiovascular events, venous thromboembolism, renal events, or serious gastrointestinal events. However, patients receiving oral JAKi showed significantly higher risks of skin and subcutaneous tissue infection (HR = 1.35, 95% CI = 1.07-1.69), herpes infection (herpes simplex, HR = 1.64, 95% CI = 1.03-2.61; herpes zoster, HR = 2.51, 95% CI = 1.14-5.52), acne (HR = 2.09, 95% CI = 1.54-2.84), cytopenia (anemia, HR = 1.83, 95% CI = 1.39-2.41; neutropenia, HR = 4.02, 95% CI = 1.91-8.47; thrombocytopenia, HR = 1.76, 95% CI = 1.08-2.89), and hyperlipidemia (HR = 1.45, 95% CI = 1.09-1.92); the risk of ophthalmic complications was higher in those receiving dupilumab (HR = 1.49, 95% CI = 1.03-2.17)., Conclusion: Oral JAKi did not exhibit concerning safety issues in treating patients with AD but increased the risk of infections and abnormalities in laboratory findings. Long-term follow-up data are required to validate these results., Competing Interests: Disclosure statement M.O. was supported by grants NIH/NIAID R01 AI142872, R01 AI172938, and R21 AI151591. W.P. was supported by grant NIH/NIAID K24 AI106822. Disclosure of potential conflict of interest: E. B. Hawryluk is on the advisory board of Apogee; consults for Skin Analytics; and receives royalties from UpToDate as an author and reviewer. L. C. Schneider is an investigator for Regeneron and DBV Technologies; and is on the advisory boards of Sanofi, Triveni Bio, DBV, Alladapt Immunotherapeutics, BioThea Pharmaceuticals, Ukko, Leo Pharmaceuticals, DAIT/NIAID, and the National Eczema Association. The rest of the authors declare that they have no relevant conflicts of interest., (Copyright © 2024. Published by Elsevier Inc.)
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- 2024
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4. Evaluation and Surgical Management of Pediatric Cutaneous Melanoma and Atypical Spitz and Non-Spitz Melanocytic Tumors (Melanocytomas): A Report From Children's Oncology Group.
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Sargen MR, Barnhill RL, Elder DE, Swetter SM, Prieto VG, Ko JS, Bahrami A, Gerami P, Karunamurthy A, Pappo AS, Schuchter LM, LeBoit PE, Yeh I, Kirkwood JM, Jen M, Dunkel IJ, Durham MM, Christison-Lagay ER, Austin MT, Aldrink JH, Mehrhoff C, Hawryluk EB, Chu EY, Busam KJ, Sondak V, Messina J, Puig S, Colebatch AJ, Coughlin CC, Berrebi KG, Laetsch TW, Mitchell SG, and Seynnaeve B
- Abstract
Purpose: The purpose of this study was to develop recommendations for the diagnostic evaluation and surgical management of cutaneous melanoma (CM) and atypical Spitz tumors (AST) and non-Spitz melanocytic tumors (melanocytomas) in pediatric (age 0-10 years) and adolescent (age 11-18 years) patients., Methods: A Children's Oncology Group-led panel with external, multidisciplinary CM specialists convened to develop recommendations on the basis of available data and expertise., Results: Thirty-three experts from multiple specialties (cutaneous/medical/surgical oncology, dermatology, and dermatopathology) established recommendations with supporting data from 87 peer-reviewed publications., Recommendations: (1) Excisional biopsies with 1-3 mm margins should be performed when feasible for clinically suspicious melanocytic neoplasms. (2) Definitive surgical treatment for CM, including wide local excision and sentinel lymph node biopsy (SLNB), should follow National Comprehensive Cancer Network Guidelines in the absence of data from pediatric-specific surgery trials and/or cohort studies. (3) Accurate classification of ASTs as benign or malignant is more likely with immunohistochemistry and next-generation sequencing. (4) It may not be possible to classify some ASTs as likely/definitively benign or malignant after clinicopathologic and/or molecular correlation, and these Spitz tumors of uncertain malignant potential should be excised with 5 mm margins. (5) ASTs favored to be benign should be excised with 1- to 3-mm margins if transected on biopsy. (6) Re-excision is not necessary if the AST does not extend to the biopsy margin(s) when complete/excisional biopsy was performed. (7) SLNB should not be performed for Spitz tumors unless a diagnosis of CM is favored on clinicopathologic evaluation. (8) Non-Spitz melanocytomas have a presumed increased risk for progression to CM and should be excised with 1- to 3-mm margins if transected on biopsy. (9) Re-excision of non-Spitz melanocytomas is not necessary if the lesion is completely excised on biopsy.
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- 2024
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5. Early-Onset Melanocytic Nevi: Cutaneous, Developmental, Psychological, and Endocrine Associations.
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Tsai SY, Ma KS, and Hawryluk EB
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- Humans, Child, Age of Onset, Infant, Child, Preschool, Nevus, Pigmented pathology, Skin Neoplasms pathology
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- 2024
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6. Evaluation of dupilumab on the disease burden in children and adolescents with atopic dermatitis: A population-based cohort study.
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Tsai SY, Gaffin JM, Hawryluk EB, Ruran HB, Bartnikas LM, Oyoshi MK, Schneider LC, Phipatanakul W, and Ma KS
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- Humans, Child, Adolescent, Male, Female, Child, Preschool, Infant, Cohort Studies, Cost of Illness, Infant, Newborn, Treatment Outcome, Population Surveillance, Dermatitis, Atopic drug therapy, Dermatitis, Atopic epidemiology, Antibodies, Monoclonal, Humanized therapeutic use, Comorbidity
- Abstract
Background: Dupilumab is the first and only biologic agent approved for the treatment of atopic dermatitis (AD) in pediatric patients aged from 6 months to 17 years. The study aimed to evaluate the impact of dupilumab on the occurrence of comorbidities in pediatric patients with AD., Methods: In this population-based cohort study, we utilized electronic health records from multiple healthcare organizations across the United States. Pediatric patients (<18 years of age) with a diagnosis of AD initiating dupilumab were propensity-score matched 1:1 to those initiating other systemic agents (azathioprine, cyclosporine, methotrexate, mycophenolate mofetil, or systemic corticosteroids). The primary outcomes were new-onset comorbidities emerging during the study period measured by the risk ratio (RR) and its confidence interval (CI). Subgroup analyses were stratified by age (0-5 years, 6-11 years, and 12-17 years), sex, and race., Results: A total of 3575 pediatric patients with AD treated with dupilumab were matched to 3575 patients treated with other systemic agents. The dupilumab cohort was associated with a lowered risk of new-onset atopic comorbidities (including asthma [RR, 0.72; 95% CI, 0.59-0.89] and allergic rhinitis [RR, 0.62; 95% CI, 0.52-0.74]), infections (e.g., skin and soft tissue infection [RR, 0.70; 95% CI, 0.63-0.76] and respiratory tract infection [RR = 0.56; 95% CI, 0.51-0.61]), psychiatric disorders (e.g., mood disorder [RR, 0.52; 95% CI, 0.39-0.70] and anxiety [RR, 0.57; 95% CI, 0.46-0.70], sleep disturbance [RR, 0.60; 95% CI, 0.47-0.77]), neurologic and developmental disorders (e.g., attention deficit hyperactivity disorder [RR, 0.54; 95% CI, 0.38-0.75]). Furthermore, the positive effects are found to be more pronounced in younger children (aged 0-5 years) with AD., Conclusions: Treatment with dupilumab compared to systemic agents resulted in reductions in AD-related comorbidities in pediatric patients., (© 2024 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)
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- 2024
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7. Epidemiological patterns and survival outcomes in 1666 cases of malignant melanomas arising from giant pigmented nevi.
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Ugwu N, Hawryluk EB, and Weiss J
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- Humans, Female, Male, Middle Aged, Adult, Aged, Survival Rate, Retrospective Studies, Melanoma mortality, Melanoma pathology, Melanoma epidemiology, Skin Neoplasms pathology, Skin Neoplasms mortality, Skin Neoplasms epidemiology, Nevus, Pigmented pathology, Nevus, Pigmented epidemiology
- Abstract
Competing Interests: Conflicts of interest Dr Hawryluk discloses unrelated conflicts of Apogee (advisory board), UpToDate (author/reviewer-honorarium), Skin Analytics (consultant, ended 2023). Authors Ugwu and Weiss have no conflicts of interest or financial disclosures.
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- 2024
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8. The elusive BAP1 mutation in pediatric melanocytic tumors.
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Moustafa D, Mologousis MA, Duncan LM, and Hawryluk EB
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- Humans, Child, Male, Female, Melanoma genetics, Melanoma pathology, Adolescent, Child, Preschool, Proto-Oncogene Proteins B-raf genetics, Immunohistochemistry, Ubiquitin Thiolesterase genetics, Skin Neoplasms genetics, Skin Neoplasms pathology, Tumor Suppressor Proteins genetics, Mutation, Nevus, Epithelioid and Spindle Cell genetics, Nevus, Epithelioid and Spindle Cell pathology
- Abstract
Cutaneous BAP1-inactivated melanocytomas (BIM) are melanocytic proliferations defined histopathologically by an epithelioid, predominantly dermal melanocytic proliferation with loss of BAP1, and have been largely characterized in adult patients but less well-described in pediatric cohorts. BIM share overlapping histological features with those seen in Spitz nevi; however, unlike Spitz nevi, the majority of BIM carry both BAP1 and BRAF
V600E mutations. This study investigated the potential overlap of BIMs with pediatric Spitz nevi by performing immunohistochemical staining of BAP1 and BRAFV600E on pediatric melanocytic tumors with banal Spitz and dermal features. None of the stained tumors in our study exhibited the concurrent BAP1 loss and BRAFV600E positivity that are characteristic of adult BIM, suggesting that this is a low-frequency mutation among banal tumors in the pediatric population., (© 2024 Wiley Periodicals LLC.)- Published
- 2024
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9. Dermoscopy aids in differentiating café-au-lait macules from congenital melanocytic nevi in patients with darker skin phototypes.
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Shah A, Hawryluk EB, and Seiverling EV
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Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café-au-lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin. We report two cases of young children with dark skin and many hyperpigmented patches in whom dermoscopy was utilized to accurately diagnose CALMs and facilitate testing for neurofibromatosis., (© 2024 The Author(s). Pediatric Dermatology published by Wiley Periodicals LLC.)
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- 2024
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10. Melanoma-like features in pediatric longitudinal melanonychia: A systematic review and meta-analysis.
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Tsai SY, Hamilton CE, Mologousis MA, and Hawryluk EB
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- Humans, Child, Diagnosis, Differential, Adolescent, Nail Diseases pathology, Nail Diseases diagnosis, Melanoma diagnosis, Melanoma pathology, Skin Neoplasms pathology, Skin Neoplasms diagnosis, Dermoscopy
- Abstract
Background: Pediatric longitudinal melanonychia (LM) can exhibit atypical features that mimic red-flag signs for subungual melanoma in adults and lead to diagnostic uncertainty. Nail biopsy may be unnecessary if clinical inspection and dermoscopy suggest a benign nature., Methods: We searched PubMed and Embase from inception to February 2023 for studies of any design reporting either the number or proportion of clinical and dermoscopic features in at least five children (≤18 years) with LM. Non-English articles, reviews, and abstracts were excluded. We performed a systematic review and meta-analysis to collate all existing data., Results: A total of 1218 articles were screened and 24 studies with 1391 pediatric patients were included. Nevus was the most common diagnosis (86.3%). The most prevalent sites were fingernails (76.2%) and first digits (45.4%). Pooled proportions of common features were: dark-color bands (69.8%), multi-colored bands (47.6%), broad bandwidth (41.1%), pseudo-Hutchinson sign (41.0%), irregular patterns (38.1%), Hutchinson sign (23.7%), dots and globules (22.5%), nail dystrophy (18.2%), and triangular sign (10.9%). Outcomes included progression (widening or darkening, 29.9%), stability (23.3%), and spontaneous regression (narrowing or fading, 19.9%). Only eight cases of subungual melanoma in situ were reported, and no invasive melanomas were identified., Conclusion: Although atypical characteristics are common in pediatric LM, the probability of malignant transformation is exceedingly low. Appropriate evaluation and management of pediatric LM includes careful clinical and dermoscopic inspection with attention to benign features followed by long-term interval follow-up., (© 2024 Wiley Periodicals LLC.)
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- 2024
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11. Cost and access considerations for magnetic resonance imaging screening of infants with congenital melanocytic nevi: Authors' response to correspondence.
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Neale H, Plumptre I, Belazarian L, Wiss K, and Hawryluk EB
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- Humans, Infant, Infant, Newborn, Female, Male, Nevus, Pigmented congenital, Nevus, Pigmented pathology, Nevus, Pigmented diagnostic imaging, Skin Neoplasms pathology, Skin Neoplasms congenital, Skin Neoplasms diagnosis, Magnetic Resonance Imaging economics
- Abstract
Competing Interests: Conflicts of interest None disclosed.
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- 2024
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12. Cost of hospitalization for care of children with epidermolysis bullosa in the US.
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Desai AD, Singal A, Behbahani S, Soliman Y, and Hawryluk EB
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- Humans, Child, United States, Child, Preschool, Male, Female, Adolescent, Infant, Hospital Costs statistics & numerical data, Retrospective Studies, Epidermolysis Bullosa economics, Epidermolysis Bullosa therapy, Hospitalization economics, Hospitalization statistics & numerical data
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Competing Interests: Conflicts of interest None disclosed.
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- 2024
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13. Risk factors and outcomes of melanoma in children and adolescents: A retrospective multicenter study.
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Hawryluk EB, Moustafa D, Barry KK, Bahrani E, Reusch DB, Brahmbhatt M, Chen L, Coughlin CC, Gerami P, Haddock E, Hook K, Humphrey SR, Kao PC, Kruse LL, Lawley LP, Mansour D, Marghoob AA, Nguyen J, Phung TL, Pope E, Raisanen T, Robinson S, Rogers T, Schmidt B, Tran G, Travis K, Wolner Z, London WB, Eichenfield LF, and Huang J
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- Adult, Humans, Child, Adolescent, Retrospective Studies, Sentinel Lymph Node Biopsy, Risk Factors, Melanoma pathology, Skin Neoplasms pathology
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Background: Pediatric melanoma presents with distinct clinical features compared to adult disease., Objective: Characterize risk factors and negative outcomes in pediatric melanoma., Methods: Multicenter retrospective study of patients under 20 years diagnosed with melanoma between January 1, 1995 and June 30, 2015 from 11 academic medical centers., Results: Melanoma was diagnosed in 317 patients, 73% of whom were diagnosed in adolescence (age ≥11). Spitzoid (31%) and superficial spreading (26%) subtypes were most common and 11% of cases arose from congenital nevi. Sentinel lymph node biopsy was performed in 68% of cases and positive in 46%. Fatality was observed in 7% of cases. Adolescent patients with melanoma were more likely to have family history of melanoma (P = .046) compared to controls., Limitations: Retrospective nature, cohort size, control selection, and potential referral bias., Conclusion: Pediatric melanoma has diverse clinical presentations. Better understanding of these cases and outcomes may facilitate improved risk stratification of pediatric melanoma., Competing Interests: Conflicts of interest SH reports honorarium from Elsevier and past consulting for Novan Pharmaceuticals., (Copyright © 2024. Published by Elsevier Inc.)
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- 2024
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14. Guidance on screening magnetic resonance imaging decisions for congenital melanocytic nevi.
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Neale H, Plumptre I, Belazarian L, Wiss K, and Hawryluk EB
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- Humans, Magnetic Resonance Imaging, Melanoma diagnostic imaging, Melanoma pathology, Skin Neoplasms diagnostic imaging, Skin Neoplasms congenital, Nevus, Epithelioid and Spindle Cell
- Abstract
Competing Interests: Conflicts of interest None disclosed.
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- 2024
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15. Features, management, and outcomes of pediatric scalp melanomas.
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Mologousis MA, Moustafa D, and Hawryluk EB
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- Child, Humans, Scalp, Boston epidemiology, Melanoma diagnosis, Melanoma therapy, Skin Neoplasms diagnosis, Skin Neoplasms surgery, Nevus, Blue
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Pediatric melanoma of the scalp has the highest mortality of any anatomic location. We describe five pediatric patients with a diagnosis of scalp melanoma receiving care at Massachusetts General Hospital and/or Boston Children's Hospital from 2018 through 2022. Melanoma presented in diverse contexts: cellular blue nevus-associated, compound nevus-associated, spitzoid, nodular, and superficial spreading subtypes. This study describes a range of melanoma presentations and emphasizes the need for additional compilation of data on pediatric scalp melanomas to promote their recognition and improve patient care., (© 2023 Wiley Periodicals LLC.)
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- 2024
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16. Updates in the Management of Congenital Melanocytic Nevi.
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Mologousis MA, Tsai SY, Tissera KA, Levin YS, and Hawryluk EB
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Congenital melanocytic nevi (CMN) carry an increased risk of melanoma and may be disfiguring, and consensus regarding treatment recommendations is lacking. While clinical monitoring is the standard of care, many caregivers are interested in its removal to prevent psychosocial burden or to decrease risk. Although melanoma can occur regardless of CMN removal, there are a variety of treatments that may offer improved cosmesis or local symptom control, including surgical excision, laser therapy, and other superficially destructive techniques. Regardless of the selected management, these patients are monitored for ongoing melanoma risk. An extensive discussion with families regarding the risks and benefits of observation versus active intervention is essential. To facilitate these discussions, we herein summarize current CMN management strategies and considerations.
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- 2024
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17. Idiopathic Facial Aseptic Granuloma in a Healthy 3-Year-Old Girl.
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Mologousis MA, King CS, and Hawryluk EB
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- Female, Humans, Child, Preschool, Skin, Granuloma diagnosis, Granuloma drug therapy, Diagnosis, Differential, Anti-Bacterial Agents therapeutic use, Skin Neoplasms
- Abstract
Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest.
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- 2024
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18. Gems of Pediatric Dermatology: Response to Burshtein et al, "Efficacy, perception and utilization of pediatric teledermatology: A systematic review".
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Mologousis MA, Olvera D, and Hawryluk EB
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Competing Interests: Dr Hawryluk is an author and reviewer for UpToDate, serves as a consultant for Skin Analytics, and has received research materials from DermTech. Authors Mologousis and Olvera have no conflicts of interest to declare.
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- 2023
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19. Seeking better resolution to magnetic resonance imaging recommendations for infants with congenital melanocytic nevi.
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Neale H, Plumptre I, Belazarian L, Wiss K, and Hawryluk EB
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- Humans, Infant, Magnetic Resonance Imaging, Nevus, Pigmented diagnostic imaging, Nevus, Pigmented congenital, Skin Neoplasms diagnostic imaging, Skin Neoplasms congenital, Melanosis pathology, Neurocutaneous Syndromes
- Abstract
Competing Interests: Conflicts of interest None disclosed.
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- 2023
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20. Transient Skin Rippling in an Infant.
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Mologousis MA and Hawryluk EB
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- Humans, Infant, Skin pathology
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- 2023
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21. Tumor necrosis factor-alpha inhibitors and acne fulminans: Friend or foe?
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Barry KK, Neale HD, and Hawryluk EB
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- Humans, Tumor Necrosis Factor Inhibitors therapeutic use, Skin pathology, Adalimumab adverse effects, Immunologic Factors therapeutic use, Tumor Necrosis Factor-alpha, Acne Vulgaris drug therapy
- Abstract
Acne fulminans (AF) is an uncommon variant of inflammatory acne with abrupt eruption of painful nodules, pustules, and hemorrhagic ulcerations, often associated with systemic symptoms. Paradoxical adverse reactions to tumor necrosis (TNF)-alpha inhibitors have been reported, and rare cutaneous complications include pyoderma gangrenosum, Sweet syndrome-like hypersensitivity eruptions, and pustular folliculitis. We report an unusual case of AF in a patient with Crohn disease that worsened with doses of adalimumab, which is considered a second-line treatment for AF. This case highlights that acneiform eruptions may be an underreported paradoxical adverse reaction to anti-TNF alpha therapy., (© 2022 Wiley Periodicals LLC.)
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- 2023
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22. Early Detection and Prognostic Assessment of Cutaneous Melanoma: Consensus on Optimal Practice and the Role of Gene Expression Profile Testing.
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Kashani-Sabet M, Leachman SA, Stein JA, Arbiser JL, Berry EG, Celebi JT, Curiel-Lewandrowski C, Ferris LK, Grant-Kels JM, Grossman D, Kulkarni RP, Marchetti MA, Nelson KC, Polsky D, Seiverling EV, Swetter SM, Tsao H, Verdieck-Devlaeminck A, Wei ML, Bar A, Bartlett EK, Bolognia JL, Bowles TL, Cha KB, Chu EY, Hartman RI, Hawryluk EB, Jampel RM, Karapetyan L, Kheterpal M, Lawson DH, Leming PD, Liebman TN, Ming ME, Sahni D, Savory SA, Shaikh SS, Sober AJ, Sondak VK, Spaccarelli N, Usatine RP, Venna S, and Kirkwood JM
- Subjects
- Humans, Prognosis, Transcriptome, Public Health, Risk Assessment, Melanoma, Cutaneous Malignant, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms pathology, Melanoma diagnosis, Melanoma genetics, Melanoma pathology
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Importance: Therapy for advanced melanoma has transformed during the past decade, but early detection and prognostic assessment of cutaneous melanoma (CM) remain paramount goals. Best practices for screening and use of pigmented lesion evaluation tools and gene expression profile (GEP) testing in CM remain to be defined., Objective: To provide consensus recommendations on optimal screening practices and prebiopsy diagnostic, postbiopsy diagnostic, and prognostic assessment of CM., Evidence Review: Case scenarios were interrogated using a modified Delphi consensus method. Melanoma panelists (n = 60) were invited to vote on hypothetical scenarios via an emailed survey (n = 42), which was followed by a consensus conference (n = 51) that reviewed the literature and the rationale for survey answers. Panelists participated in a follow-up survey for final recommendations on the scenarios (n = 45)., Findings: The panelists reached consensus (≥70% agreement) in supporting a risk-stratified approach to melanoma screening in clinical settings and public screening events, screening personnel recommendations (self/partner, primary care provider, general dermatologist, and pigmented lesion expert), screening intervals, and acceptable appointment wait times. Participants also reached consensus that visual and dermoscopic examination are sufficient for evaluation and follow-up of melanocytic skin lesions deemed innocuous. The panelists reached consensus on interpreting reflectance confocal microscopy and some but not all results from epidermal tape stripping, but they did not reach consensus on use of certain pigmented lesion evaluation tools, such as electrical impedance spectroscopy. Regarding GEP scores, the panelists reached consensus that a low-risk prognostic GEP score should not outweigh concerning histologic features when selecting patients to undergo sentinel lymph node biopsy but did not reach consensus on imaging recommendations in the setting of a high-risk prognostic GEP score and low-risk histology and/or negative nodal status., Conclusions and Relevance: For this consensus statement, panelists reached consensus on aspects of a risk-stratified approach to melanoma screening and follow-up as well as use of visual examination and dermoscopy. These findings support a practical approach to diagnosing and evaluating CM. Panelists did not reach consensus on a clearly defined role for GEP testing in clinical decision-making, citing the need for additional studies to establish the clinical use of existing GEP assays.
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- 2023
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23. Screening motivations among participants of the American Academy of Dermatology's SPOT Skin Cancer screening program from 2018 to 2019: A cross-sectional analysis.
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Gao DX, Swetter SM, Hawryluk EB, Geller AC, and Beaulieu D
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- Humans, United States, Cross-Sectional Studies, Motivation, Early Detection of Cancer, Dermatology, Skin Neoplasms diagnosis
- Abstract
Competing Interests: Conflicts of interest None disclosed.
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- 2023
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24. Dynamic evolution of a scalp congenital melanocytic nevus with poliosis and cutis verticis gyrata.
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Barry KK, Blundell AR, and Hawryluk EB
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- Male, Humans, Adolescent, Scalp, Skin Neoplasms complications, Skin Neoplasms congenital, Scalp Dermatoses complications, Scalp Dermatoses congenital, Nevus, Pigmented complications, Pigmentation Disorders, Hair Diseases
- Abstract
Cutis verticis gyrata (CVG), characterized by cerebriform overgrowth of the scalp, is rarely observed in congenital melanocytic nevi (CMN). We describe a 13-year-old male with autism and a large CMN of the scalp with numerous satellite nevi whose scalp nevus exhibited evolution with poliosis and CVG. Given the potential association of CVG (independent of CMN) with seizures, neuropsychiatric, and ophthalmologic disorders, and nevus-associated CVG (cerebriform intradermal nevus) with melanoma, multidisciplinary evaluation of CMN patients with CVG is important to guide management and treatment., (© 2022 Wiley Periodicals LLC.)
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- 2023
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25. Central nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study.
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Neale H, Plumptre I, Belazarian L, Wiss K, and Hawryluk EB
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- Brain diagnostic imaging, Child, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Melanins, Retrospective Studies, Melanosis pathology, Nevus pathology, Nevus, Pigmented pathology, Skin Neoplasms diagnosis
- Abstract
Background: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines., Objective: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes., Methods: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN., Results: Three hundred fifty-two patients were identified. Forty-six children had CMN that prompted an MRI of the brain and/or spine (50% male, average age at first image, 354.8 days). In these children, 8 (17%) had melanin detected in the CNS, of whom all had >4 CMN. One developed brain melanoma (fatal). In patients without CNS melanin, 4 had concerning imaging. Concerning MRI patients had more neurodevelopmental problems, seizures, neurosurgery, and death than individuals with unremarkable imaging. Three hundred six patients received MRIs for other reasons; none detected melanin. No children with only multiple small CMN (n = 15) had concerning imaging., Limitations: Lack of a control group, cohort size, and retrospective methods., Conclusion: MRI of the brain and spine is useful for detecting intervenable abnormalities in high-risk children. Healthy infants with few small CMN may not require screening MRI., Competing Interests: Conflicts of interest None disclosed., (Copyright © 2022 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)
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- 2022
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26. Patient and caregiver perspectives on delayed childhood Gorlin syndrome diagnoses.
- Author
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Neale H, Breneiser JA, and Hawryluk EB
- Subjects
- Caregivers, Child, Humans, Surveys and Questionnaires, Basal Cell Nevus Syndrome diagnosis
- Abstract
The diagnostic trends of Gorlin syndrome (GS) in the pediatric population are not well understood. In an international survey conducted by the Gorlin Syndrome Alliance, 118 individuals who were diagnosed with GS when aged 18 years and under provided information about their diagnosis. Oral surgeons and dermatologists were the most commonly reported physicians involved in diagnosis for 48.3% and 28% of cases, respectively. For 50% of children, the diagnosis was made within a year from presenting sign(s), while 27% report over 4 years to receive GS diagnosis. Of individuals who reported >4 years between presenting signs and diagnosis, 81.3% attributed the delay to insufficient medical team knowledge and 65.6% attributed to lack of personal awareness that presenting signs were related to GS, emphasizing the need for patient and physician education of GS for prompt diagnosis., (© 2022 Wiley Periodicals LLC.)
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- 2022
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27. Access to pediatric dermatology.
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Barry KK and Hawryluk EB
- Subjects
- Child, Curriculum, Health Services Accessibility, Humans, Workforce, Dermatology, Telemedicine
- Abstract
Purpose of Review: To identify factors that impact accessibility to pediatric dermatology and review healthcare delivery models that improve access and address these barriers., Recent Findings: Up to one-third of pediatric primary care visits include a skin-related problem, yet pediatric dermatology subspecialist services are highly inaccessible. Workforce shortages and geographic, sociocultural, and economic barriers perpetuate inaccessibility. Teledermatology expands care, particularly to underserved or geographically remote communities, and reduces healthcare-related costs. Federal legislation to support telehealth services with adequate reimbursement for providers with parity between live, video, and phone visits will dictate the continued feasibility of virtual visits. Innovative care delivery models, such as language-based clinics, multidisciplinary teleconferencing, or embedded dermatology services within primary care are other promising alternatives., Summary: Despite efforts to expand access, dermatology still ranks among the most underserved pediatric subspecialties. Improving access requires a multipronged approach. Efforts to expand exposure and mentorship within pediatric dermatology, diversify the workforce and clinical curriculum, recruit and retain clinicians in geographically underserved areas, and collaborate with policymakers to ensure adequate reimbursement for teledermatology services are necessary., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2022
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28. When Your Energy Drink Gives You More Than Wings.
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Barry KK, Hawryluk EB, and Yu J
- Subjects
- Humans, Energy Drinks adverse effects
- Abstract
Competing Interests: The authors have no funding or conflicts of interest to declare.
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- 2022
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29. Pediatric Lichen Myxedematosus: A Diagnostic and Management Challenge.
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Barry KK, Reusch DB, Schmidt BAR, and Hawryluk EB
- Abstract
Localized lichen myxedematosus (LM) is a rare, idiopathic mucinosis characterized by dermal mucin deposition and variable fibroblast proliferation. Nodular lichen myxedematosus, a clinicopathologic subtype of localized LM, is exceedingly rare in pediatric patients with only three prior cases reported. Understanding of LM in pediatric patients is limited by the rarity of the disease, and diagnosis is complicated by overlapping clinical and histopathologic features. There is no standardized treatment for localized LM and treatment is largely dictated by a patient's desire to minimize cosmetic disfigurement. This case series reports two additional patients with juvenile nodular lichen myxedematosus, highlights the limitations of existing diagnostic criteria, and describes successful treatment of one patient with intralesional triamcinolone.
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- 2022
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30. Topical therapy for regression and melanoma prevention of congenital giant nevi.
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Choi YS, Erlich TH, von Franque M, Rachmin I, Flesher JL, Schiferle EB, Zhang Y, Pereira da Silva M, Jiang A, Dobry AS, Su M, Germana S, Lacher S, Freund O, Feder E, Cortez JL, Ryu S, Babila Propp T, Samuels YL, Zakka LR, Azin M, Burd CE, Sharpless NE, Liu XS, Meyer C, Austen WG Jr, Bojovic B, Cetrulo CL Jr, Mihm MC, Hoon DS, Demehri S, Hawryluk EB, and Fisher DE
- Subjects
- Animals, Heterografts, Humans, Mice, Neoplasm Transplantation, Melanoma drug therapy, Melanoma pathology, Nevus, Pigmented congenital, Nevus, Pigmented drug therapy, Nevus, Pigmented pathology, Skin Neoplasms drug therapy, Skin Neoplasms pathology, Skin Neoplasms prevention & control
- Abstract
Giant congenital melanocytic nevi are NRAS-driven proliferations that may cover up to 80% of the body surface. Their most dangerous consequence is progression to melanoma. This risk often triggers preemptive extensive surgical excisions in childhood, producing severe lifelong challenges. We have presented preclinical models, including multiple genetically engineered mice and xenografted human lesions, which enabled testing locally applied pharmacologic agents to avoid surgery. The murine models permitted the identification of proliferative versus senescent nevus phases and treatments targeting both. These nevi recapitulated the histologic and molecular features of human giant congenital nevi, including the risk of melanoma transformation. Cutaneously delivered MEK, PI3K, and c-KIT inhibitors or proinflammatory squaric acid dibutylester (SADBE) achieved major regressions. SADBE triggered innate immunity that ablated detectable nevocytes, fully prevented melanoma, and regressed human giant nevus xenografts. These findings reveal nevus mechanistic vulnerabilities and suggest opportunities for topical interventions that may alter the therapeutic options for children with congenital giant nevi., Competing Interests: Declaration of interests D.E.F. has a financial interest in Soltego, a company developing salt inducible kinase inhibitors for topical skin-darkening treatments that might be used for a broad set of human applications. The interests of D.E.F. were reviewed and are managed by Massachusetts General Hospital and Partners HealthCare in accordance with their conflict-of-interest policies. C.L.C. has a financial interest in 4Immune, a company developing cell therapy treatments that can be used for a broad set of human applications. The interests of C.L.C were reviewed and are managed by Mass General Brigham in accordance with their conflict-of-interest policies. X.S.L. is a cofounder, board member, SAB member, and consultant of GV20 Oncotherapy and its subsidiaries; stockholder of BMY, TMO, WBA, ABT, ABBV, and JNJ; and received research funding from Takeda, Sanofi, Bristol Myers Squibb, and Novartis. M.C.M. discloses consulting relationship with Novartis, Advisory Board with BioCoz and Caliber ID, and author royalties with Wiley & Sons., (Copyright © 2022 Elsevier Inc. All rights reserved.)
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- 2022
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31. Association between income and suspected nonmelanoma and melanoma skin cancers among participants of the American Academy of Dermatology's SPOT Skin Cancer screening program: A cross-sectional analysis.
- Author
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Beaulieu D, Gao DX, Swetter SM, Hawryluk EB, and Geller AC
- Subjects
- Cross-Sectional Studies, Early Detection of Cancer, Humans, United States epidemiology, Melanoma, Cutaneous Malignant, Dermatology, Melanoma diagnosis, Melanoma epidemiology, Melanoma prevention & control, Skin Neoplasms diagnosis, Skin Neoplasms epidemiology, Skin Neoplasms prevention & control
- Abstract
Competing Interests: Conflicts of interest None disclosed.
- Published
- 2022
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32. Topical treatment of pyogenic granulomas in a pediatric population: A single-institution retrospective review.
- Author
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Barry KK, Liang MG, and Hawryluk EB
- Abstract
Competing Interests: None disclosed.
- Published
- 2022
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- View/download PDF
33. Pigmented Skin Lesion without Biopsy Pigment.
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Blundell A, Neale H, and Hawryluk EB
- Subjects
- Biopsy, Humans, Skin pathology, Melanoma pathology, Pigmentation Disorders diagnosis, Pigmentation Disorders pathology, Skin Neoplasms pathology
- Published
- 2022
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34. Genomic comparison of malignant melanoma and atypical Spitz tumor in the pediatric population.
- Author
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Church AJ, Moustafa D, Pinches RS, Hawryluk EB, and Schmidt BAR
- Subjects
- Adult, Biomarkers, Tumor, Child, Genomics, Humans, Protein-Tyrosine Kinases, Proto-Oncogene Proteins genetics, Melanoma, Cutaneous Malignant, Melanoma diagnosis, Melanoma genetics, Melanoma pathology, Nevus, Epithelioid and Spindle Cell diagnosis, Nevus, Epithelioid and Spindle Cell genetics, Nevus, Pigmented, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms pathology
- Abstract
Background/objectives: The diagnostic distinction between atypical Spitz tumor (AST) and malignant melanoma (MM) in pediatric tumors is challenging. Molecular tests are increasingly used to characterize these neoplasms; however, limited studies are available in pediatric patients. This study aimed to provide a genomic comparison of pediatric MM and AST in the context of comprehensive clinical annotation., Methods: Pediatric patients diagnosed with MM (n=11) and AST (n=12) were compared to a cohort of 693 adult melanoma patients. DNA next-generation sequencing assessed kinase gene fusions, tumor mutational burden, sequence variants, copy number alterations, structural variants, microsatellite instability, and mutational signatures., Results: Seven AST cases and eight MM cases were successfully sequenced. Kinase gene fusions were identified in both the MM and AST cohorts (NTRK1, ROS1, and MET). MM cases had TERT, BRAF, and CDKN2A alterations, which were not identified in the AST cohort. Tumor mutational burden (TMB) analysis showed pediatric ASTs had an average of 2.82 mutations/Mb, pediatric MM had an average of 5.7 mutations/Mb, and adult MM cases averaged 18.8 mut/Mb. One pediatric MM case had an elevated TMB of 15 mutations/Mb and a UV mutational signature., Conclusions: These data expand our understanding of pediatric malignant melanoma. The differences between the molecular signatures for AST and MM are not statistically significant, and histopathology remains the gold standard for the diagnosis of pediatric AST and MM at this time. With more data, molecular studies may provide additional support for diagnosis and targeted therapeutics., (© 2022 Wiley Periodicals LLC.)
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- 2022
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35. Pigmented Lesions in Children: Update on Clinical, Histopathologic and Ancillary Testing.
- Author
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Bartenstein Reusch D and Hawryluk EB
- Subjects
- Child, Diagnosis, Differential, Humans, Dermatology, Melanoma diagnosis, Nevus, Epithelioid and Spindle Cell diagnosis, Skin Neoplasms diagnosis
- Abstract
Patients are commonly referred to pediatric dermatology for the evaluation of pigmented lesions. For families, pediatricians, and dermatologists alike, malignancy is the main fear. In the past few decades, there has been evolving literature to inform diagnosis and management. This article provides an update on the clinical, histopathologic, and ancillary testing for 3 categories of particularly challenging pigmented lesions: congenital melanocytic nevi, spitzoid neoplasms, and pediatric melanoma., Competing Interests: Disclosure D.W. Bartenstein: MRK (stock, self); DVA (stock, spouse); ANTM (stock, spouse); PRSC (stock, spouse); AMAG (stock, spouse). E.B. Hawryluk: UpToDate, Inc. (royalty, author/reviewer); Purity Brands, LLC (consultant); Gritstone Oncology, Inc. (salary, stock spouse); PathAI (stock and advisory board, spouse)., (Copyright © 2021 Elsevier Inc. All rights reserved.)
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- 2022
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36. Educational brochure impact on postscreening practices of American Academy of Dermatology skin cancer screening participants.
- Author
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Okhovat JP, Davine JA, Hawryluk EB, and Geller AC
- Subjects
- Early Detection of Cancer, Humans, United States, Dermatology, Melanoma diagnosis, Pamphlets, Skin Neoplasms diagnosis
- Abstract
Competing Interests: Conflicts of interest None disclosed.
- Published
- 2021
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37. Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations.
- Author
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Jahnke MN, O'Haver J, Gupta D, Hawryluk EB, Finelt N, Kruse L, Jen M, Horii KA, Frieden IJ, Price H, and Coughlin CC
- Subjects
- Hair Removal, Humans, Hypertrichosis etiology, Hypertrichosis therapy, Infant, Newborn, Magnetic Resonance Imaging, Melanosis diagnostic imaging, Neurocutaneous Syndromes diagnostic imaging, Nevus, Pigmented complications, Nevus, Pigmented pathology, Physical Examination, Pruritus etiology, Skin Care methods, Skin Neoplasms complications, Skin Neoplasms pathology, Wound Healing, Nevus, Pigmented congenital, Nevus, Pigmented therapy, Skin Neoplasms congenital, Skin Neoplasms therapy
- Abstract
A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice. Emerging evidence contributes to recommendations for screening MRI to evaluate for neural melanosis and related central nervous system complications, however, more research is needed. Risk for melanoma is generally low, but those with large, giant, or multiple CMN have a higher risk. Multidisciplinary care, with a focus on family and patient preferences, is of paramount importance. Without standardized screening and management guidelines, questions abound regarding appropriate physical examination intervals, potential treatment including full or partial excision, timing and frequency of imaging, melanoma risk, and assessment for neural melanosis. This review highlights the current state of knowledge concerning care of patients with CMN, reveals gaps in the literature surrounding skin care, and provides management recommendations. We additionally discuss cutaneous complications of CMN, such as pruritus, hypertrichosis, and wound healing. Resources and references for families and providers can help patients navigate this sometimes challenging diagnosis. Finally, we contribute expert care recommendations to the current body of literature as a foundation for the development of future, more comprehensive care guidelines., Competing Interests: POTENTIAL CONFLICT OF INTEREST: Marla N. Jahnke discloses conflicts with Sanofi (consultant), which are not relevant to the content of this article. Elena B. Hawryluk discloses conflicts with Gritstone Oncology (spouse employment, stock), PathAI (spouse stock), Purity Brands LLC (consultant), and UpToDate (author, reviewer), which are not relevant to the content of this article. Kimberly A. Horii discloses conflicts with UpToDate (author, reviewer), which are not relevant to the content of this article. Ilona J. Frieden discloses conflicts with Pfizer (Chair, Data Safety Monitoring Boards), Novartis (advisory board, consultant), and Venthera/Biobridge (consultant), which are not relevant to the content of this article. The other authors have no conflicts of interest to disclose., (Copyright © 2021 by the American Academy of Pediatrics.)
- Published
- 2021
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38. Tik Tok tyloma.
- Author
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Barry KK and Hawryluk EB
- Subjects
- Humans, Male, Young Adult, Callosities etiology, Callosities pathology, Cell Phone, Cumulative Trauma Disorders etiology, Cumulative Trauma Disorders pathology, Fingers pathology, Social Media
- Published
- 2021
- Full Text
- View/download PDF
39. Topical corticosteroids for noninvasive treatment of pyogenic granulomas.
- Author
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Moustafa D, Neale H, Ostrowski SM, Gellis SE, and Hawryluk EB
- Subjects
- Adolescent, Biopsy, Glucocorticoids, Humans, Skin, Granuloma, Pyogenic drug therapy, Skin Neoplasms
- Abstract
Pyogenic granulomas are benign vascular proliferations of the skin and mucous membranes that tend to bleed easily. They typically require procedural treatments that can be difficult for patients with intellectual disabilities or behavioral concerns to tolerate. In our practice, we have found the use of topical clobetasol to be effective to induce regression of cutaneous pyogenic granulomas. We present here a case of an adolescent patient with autism and two bleeding pyogenic granulomas who poorly tolerated a biopsy of the first lesion and could not tolerate subsequent procedures. Topical therapy with clobetasol effectively managed the second pyogenic granuloma, an approach representative of a noninvasive practice utilized in our clinic., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
- View/download PDF
40. Language-centered approach to care improvement in a pediatric dermatology clinic.
- Author
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Blundell AR, Moustafa D, Bartenstein DW, Smith GP, and Hawryluk EB
- Subjects
- Ambulatory Care Facilities, Child, Communication Barriers, Humans, Dermatology, Language
- Abstract
Language-congruent care can improve clinical outcomes. As a quality improvement initiative supported by the Department of Dermatology at Massachusetts General Hospital, the American Academy of Dermatology, and the Society for Pediatric Dermatology, our group established monthly pediatric dermatology "Spanish clinics" that scheduled Spanish-speaking patients on the same day and utilized a dedicated, live interpreter who stayed with the clinical team throughout the clinic. Patients reported high satisfaction scores, averaging 9.8 out of 10, and 90.5% of patients preferred this model to traditional appointments. Our participating physician found "Spanish clinics" allowed for more efficient care not only in the monthly pilot clinics, but in all clinics occurring during the time period., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
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41. COVID-19 Pediatric Dermatology.
- Author
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Neale H and Hawryluk EB
- Subjects
- COVID-19 Testing statistics & numerical data, Child, Humans, Skin Diseases, Viral diagnosis, COVID-19 complications, COVID-19 diagnosis, Skin Diseases, Viral etiology, Systemic Inflammatory Response Syndrome complications, Systemic Inflammatory Response Syndrome diagnosis
- Abstract
Children are a unique subset of patients in relation to the COVID-19 pandemic, often presenting asymptomatically, mildly, or atypically. Manifestations of the skin may be a primary (or the only) presenting sign. Recognizing cutaneous manifestations of COVID-19 in the pediatric population is important to guiding precautions, testing, and management for patients and close contacts. Whereas some dermatologic signs in children overlap with those in adults, other skin findings are reported with higher frequency in children and may be clues to multisystemic sequelae. This article describes presentation, pathophysiologic theories, and management strategies for cutaneous manifestations of COVID-19 in children., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
42. Solitary congenital lip pit in an infant.
- Author
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Neale H, Blundell AR, Schmidt B, and Hawryluk EB
- Subjects
- Humans, Infant, Lip, Abnormalities, Multiple, Cleft Lip diagnosis, Cleft Palate, Skin Abnormalities
- Abstract
Lower lip pits are infrequent, affecting fewer than 1 in 75 000 individuals. While more frequently associated with inherited syndromes, isolated lower lip pits may present sporadically as a solitary congenital anomaly. We describe an otherwise healthy 9-day-old infant who presented with a congenital lower lip lesion with unremarkable family history and testing. The appropriate workup for a solitary congenital lip nodule, differential diagnosis, and management of lip pits is described., (© 2021 Wiley Periodicals LLC.)
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- 2021
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43. Evaluation of electronic consults for outpatient pediatric patients with dermatologic complaints.
- Author
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Pahalyants V, Murphy WS, Gunasekera NS, Das S, Hawryluk EB, and Kroshinsky D
- Subjects
- Child, Child, Preschool, Electronics, Female, Humans, Male, Outpatients, Referral and Consultation, Dermatology, Skin Diseases diagnosis, Skin Diseases therapy, Telemedicine
- Abstract
Background: Although dermatologic complaints are frequently encountered by pediatricians, access to pediatric dermatologists remains limited. Teledermatology has been proposed to expand access to dermatologic care for children. We report our experience with a physician-to-physician store-and-forward teledermatology service (eConsults), focusing on patient and consult characteristics and their relationship with teledermatologist confidence and follow-up recommendations as well as clinical outcomes., Methods: We reviewed electronic health records of all pediatric patients referred through eConsults at the Massachusetts General Hospital from 1/13/2020 to 7/17/2020. We assessed pediatrician and parental receptiveness with a confidential survey., Results: A total of 302 referrals (median patient age 4.6 years (IQR 0.6-12); 54% female) and 310 cases were completed in 1.8 days on average (SD = 1.2). Teledermatologists rated their confidence as definite and moderate in 51.3% and 39.4% cases, respectively. Teledermatologists felt comfortable managing rashes remotely, but patients with alopecia, pigmented and vascular lesions, and warts frequently required formal dermatology evaluation. Among patients seen subsequently, full concordance was seen for 70.1% of diagnoses and 74.4% of management recommendations. All responding pediatricians were satisfied with the service, and 97.5% felt that the parents were receptive to it., Conclusions: Our study supports the growing evidence that store-and-forward teledermatology can quickly and effectively provide the access to pediatric dermatologic care and is well received by pediatricians and parents. To maximize cost-effectiveness of store-and-forward teledermatology, dermatologists should work with referring providers to improve the quality of submitted photographs and patient history as well as advise in-person referrals for cases likely to require further follow-up., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
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44. Pediatric basal cell carcinoma burden and management preferences in Gorlin syndrome: A survey study.
- Author
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Neale H, Breneiser JA, and Hawryluk EB
- Abstract
Competing Interests: Author Breneiser is the executive director and a board member for the Gorlin Syndrome Alliance. Dr Hawryluk is a board member for the Gorlin Syndrome Alliance (uncompensated). Author Neale has no conflicts of interest to declare.
- Published
- 2021
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45. Disparities in telemedicine access for Spanish-speaking patients during the COVID-19 crisis.
- Author
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Blundell AR, Kroshinsky D, Hawryluk EB, and Das S
- Subjects
- Child, Humans, Pandemics, Retrospective Studies, SARS-CoV-2, COVID-19, Telemedicine
- Abstract
The rapid rise of telemedicine during the COVID-19 pandemic raised the prospect of worsening health care disparities for vulnerable populations. We retrospectively compared pediatric teledermatology visits scheduled during the pandemic (03/17/2020-07/31/2020) with in-person appointments scheduled during the same period in 2019 and found that Spanish-speaking patients had significantly fewer scheduled appointments in 2020 (9% vs 5%, P < .001). Among the telemedicine cohort, Spanish-speaking patients were less likely to have an email address documented within the electronic medical record and less likely to have activated an online patient portal account prior to their visit during the pandemic (45% vs 62%, P = .017, and 23% vs 66%, P < .001, respectively). Our findings suggest that email connectedness may represent a bottleneck in telemedicine access for Spanish-speaking pediatric dermatology patients., (© 2020 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
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46. Characteristics of nonmelanoma skin cancer in children without identifiable risk factors.
- Author
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Zhong CS, Coughlin CC, Hawryluk EB, Hook K, Humphrey SR, Kruse L, Lawley L, Kao PC, London WB, Marghoob AA, Phung TL, Pope E, Eichenfield LF, and Huang JT
- Subjects
- Adolescent, Age Factors, Carcinoma, Basal Cell diagnosis, Carcinoma, Basal Cell etiology, Carcinoma, Basal Cell pathology, Carcinoma, Squamous Cell diagnosis, Carcinoma, Squamous Cell etiology, Carcinoma, Squamous Cell pathology, Child, Child, Preschool, Genetic Predisposition to Disease, Humans, Iatrogenic Disease epidemiology, Infant, Male, Retrospective Studies, Risk Factors, Skin pathology, Skin Neoplasms diagnosis, Skin Neoplasms etiology, Skin Neoplasms pathology, Young Adult, Carcinoma, Basal Cell epidemiology, Carcinoma, Squamous Cell epidemiology, Skin Neoplasms epidemiology
- Published
- 2021
- Full Text
- View/download PDF
47. An Innovative Model for Providing Dermatology Services Within Primary Care.
- Author
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Rea CJ, Delano S, Hawryluk EB, Rosen M, Tran KD, Pearl M, Pethe K, and Toomey SL
- Subjects
- Ambulatory Care Facilities, Appointments and Schedules, Child, Humans, Primary Health Care, Referral and Consultation, Dermatology
- Abstract
Objective: Dermatologic complaints are common in outpatient pediatrics. However, pediatric dermatology specialty care can be difficult to access. We aimed to test the feasibility of co-locating dermatology services within primary care and increase the proportion of patients treated for basic skin complaints within the medical home while decreasing wait times., Methods: The Rapid Assessment of Skin Health (RASH) clinic was created within a hospital-based primary care clinic in 11/2013. The clinic was staffed by 2 pediatricians trained in the dermatology department and supported with specialist advice as needed. Referral volume and wait times to dermatology and RASH clinic were tracked for visits between 11/1/12 and 10/31/18. A chart review was also conducted on a subset of RASH clinic visits. Primary care providers (PCPs) were surveyed about their experiences., Results: Fifty-eight percent of patients referred for a dermatologic complaint were scheduled in RASH clinic. Wait times for new patient appointments in RASH clinic were significantly shorter than for new dermatology appointments in the previous 12 months (mean 36 days vs 65 days, P < .001). The monthly number of referrals to dermatology also decreased significantly after the RASH clinic opened (24/month vs 12/month, P < .001). Ten percent of RASH patients were referred on to dermatology. In a survey of PCPs (N = 67), 76% said the RASH clinic was "extremely/very helpful.", Conclusions: Providing dermatologic care to low or moderate complexity patients within the medical home is feasible and leads to better access to care. This innovative model could be spread to other clinics and subspecialties., (Copyright © 2020 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
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48. Surgical delay and mortality for primary cutaneous melanoma.
- Author
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Guhan S, Boland G, Tanabe K, Lin W, Reddy B, Hawryluk EB, Sober AJ, and Tsao H
- Subjects
- Biopsy, COVID-19, Humans, Melanoma mortality, Melanoma pathology, Patient Acceptance of Health Care statistics & numerical data, Retrospective Studies, SARS-CoV-2, Sentinel Lymph Node Biopsy, Skin Neoplasms mortality, Skin Neoplasms pathology, Melanoma, Cutaneous Malignant, Melanoma surgery, Skin Neoplasms surgery, Time-to-Treatment
- Published
- 2021
- Full Text
- View/download PDF
49. Fatal GNAQ-mutated CNS melanoma in an adolescent with nevus of Ota.
- Author
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Blundell AR, Moustafa D, Samore WR, and Hawryluk EB
- Subjects
- Adolescent, GTP-Binding Protein alpha Subunits, Gq-G11 genetics, Humans, Central Nervous System Neoplasms genetics, Melanoma genetics, Melanosis, Nevus of Ota genetics, Skin Neoplasms diagnosis, Skin Neoplasms genetics
- Abstract
Nevus of Ota is an uncommon benign mesodermal melanosis that involves the first and second divisions of the trigeminal nerve. Primary non-cutaneous melanoma often involves distinct genetic mutations compared to cutaneous melanoma. In primary central nervous system (CNS) melanomas associated with nevus of Ota, somatic mutations most commonly occur at the Q209 and R183 residues of GNAQ and likely induce tumorigenesis through upregulation of the MAP kinase pathway. This case underscores the importance of elucidating neurologic symptoms early in patients with nevus of Ota, as a delayed presentation of CNS melanoma could portend a devastating outcome., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
- View/download PDF
50. A 20-year histopathologic study of pediatric nevi at an academic institution.
- Author
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Moustafa D, Duncan LM, and Hawryluk EB
- Subjects
- Academic Medical Centers statistics & numerical data, Adolescent, Biopsy statistics & numerical data, Child, Female, Humans, Incidence, Male, Massachusetts epidemiology, Melanoma epidemiology, Melanoma pathology, Nevus, Pigmented epidemiology, Nevus, Pigmented pathology, Skin Neoplasms epidemiology, Skin Neoplasms pathology, Young Adult, Melanoma diagnosis, Nevus, Pigmented diagnosis, Skin pathology, Skin Neoplasms diagnosis
- Published
- 2021
- Full Text
- View/download PDF
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