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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.)

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 BRAF V600E on pediatric melanocytic tumors with banal Spitz and dermal features. None of the stained tumors in our study exhibited the concurrent BAP1 loss and BRAF V600E 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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

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.)

Background/objectives: Store-and-forward teledermatology provides pediatricians with specialist guidance in managing skin disease. This study evaluates wait times and face-to-face (FTF) dermatology visit avoidance associated with a pediatric dermatology eConsult program at an urban academic medical center., Methods: In this retrospective cohort study, electronic medical records were reviewed for patients under age 18 for whom a dermatology eConsult was completed between November 1, 2014, and December 31, 2017. Wait times for eConsult completion and initial FTF dermatology appointments were calculated and compared to average wait times for new patient dermatology office appointments from 2016 to 2017. Recommendations for FTF dermatology visits were assessed, along with FTF visit attendance and potential cost savings., Results: One hundred eighty pediatric patients with 188 unrelated skin conditions ("cases") were referred to the program. Of 188 cases, FTF dermatology visits were recommended for 60 (31.9%). Actual FTF dermatology visit avoidance was 53.7% of total cases (n = 101 for whom FTF visit was not recommended and no dermatology visit occurred within 90 days after eConsult submission). The program generated potential savings of $24 059 ($9840 out-of-pocket) in 2016 dollars. Average turnaround for eConsult completion was 1.8 calendar days (median: 1 calendar day, target: 2 business days). Average wait time to initial FTF dermatology evaluation was 37.3 calendar days (versus 54.1 days for pediatric patients referred directly to dermatology clinic between 2016 and 2017)., Conclusion: Pediatric dermatology eConsults reduce wait times for specialist care, triage cases for in-office evaluation, reduce need for FTF dermatology visits, and offer potential cost savings for payers and patients., (© 2020 Wiley Periodicals LLC.)

Background/objective: Pediatric hematopoietic stem cell transplantation (HSCT) patients are at an increased risk for skin cancers. Sun exposure is a significant modifiable environmental risk factor. While patient education on sun protection and avoidance behaviors with regular dermatology evaluations are crucial for pediatric HSCT patients, the real-life practice of these sun-protection recommendations in this patient population compared to their peers is unknown., Methods: A survey-based cross-sectional cohort study was performed in pediatric HSCT patients seen at the Dana-Farber Cancer Institute and Boston Children's Hospital over a 1.5-year period compared with age/sex/Fitzpatrick skin phototype-matched healthy controls. Study participants were surveyed using the validated Glanz survey for pediatric sun protection behavioral research., Results: Eighty-five pediatric HSCT patients and 85 controls completed the study. Pediatric HSCT patients more frequently used sunscreen, hats, umbrellas, and sunglasses and obtained full-body skin exams compared to controls. No difference was observed in sun exposure during hours of peak sun intensity, frequency of purposeful tanning, tanning bed use, and the number of painful sunburns received between pediatric HSCT patients and controls., Conclusions: Although pediatric HSCT patients practice more sun protection behaviors, they experienced harmful sunburns and intentional tanning behaviors at the same rate as their peers. Patient-directed counseling and strategies to improve patient adherence to optimal sun protection behaviors could have a significant impact on the dermatology quality of life in pediatric HSCT patients., (© 2019 Wiley Periodicals, Inc.)

Background/objectives: Melanoma in children and adolescents is uncommon, and there are limited data on pediatric outcomes. Several studies have shown comparable survival rates in children and adults, but other research demonstrates that prepubescent children have more favorable outcomes. This study aims to compare childhood and adolescent melanoma., Methods: Retrospective cohort study of children who received a melanoma diagnosis at the Massachusetts General Hospital between January 1, 1995, and December 21, 2016. Childhood melanoma is defined as disease occurring in patients younger than 11 years old, and adolescent melanoma is defined as disease occurring in patients 11 to 19 years old. Patients diagnosed with ocular melanoma and borderline tumors of uncertain malignant potential were excluded. This analysis compares clinical, histopathologic, and outcome characteristics of childhood and adolescent melanoma., Results: Thirty-two children with melanoma were identified (12 children, 20 adolescents). The spitzoid melanoma subtype was significantly more common in children (6/12) than adolescents (2/20) (P = .01). Four adolescents and no children with melanoma died from melanoma, and survival was significantly different between the age groups (P = .04). Median follow-up time for survivors was 3.6 years., Conclusions: These results suggest that children and adolescents present with different melanoma subtypes and that adolescents have a more aggressive disease course than children., (© 2018 Wiley Periodicals, Inc.)

A 3-year-old girl presented with a 7-month history of a waxing and waning left thigh mass associated with pruritus and erythema at the site of two previous DTaP-HepB-IPV vaccinations. Patch testing was positive to aluminum chloride, supporting a diagnosis of vaccine granuloma secondary to aluminum allergy; her symptoms had been well controlled with antihistamines and topical steroids. Injection site granulomas are a benign but potentially bothersome reaction to aluminum-containing immunizations that can be supportively managed, and we encourage strict adherence to the recommended vaccine schedule in this setting. Patch testing is a sensitive, noninvasive diagnostic tool for patients presenting with this clinical finding, and dermatologist awareness can prevent unnecessary medical examination and provide reassurance., (© 2018 Wiley Periodicals, Inc.)

Eccrine angiomatous hamartoma (EAH) is a rare, benign hamartoma of eccrine and vascular components that predominantly affects children. Growth is typically commensurate with the child's growth. Herein we report an additional case of this rare entity that enlarged after trauma in a 7-year-old girl., (© 2015 Wiley Periodicals, Inc.)

Markedly pleomorphic epithelioid cells with high mitotic activity, giant cell formation, very large atypical nuclei, multiple nucleoli and abundant cytoplasm characterize 'monster' cells and may indicate aggressive tumor behavior. Very rare reports of melanomas comprised of 'monster cells' or cells with comparable histomorphological features, found in tissue samples from skin, lymph nodes, CNS, oral cavity and ileum have been published in the literature. This case is the first such description in the lung, and it is characterized with a battery of immunohistochemical stains; BRAF mutation status was negative, and fluorescence in situ hybridization analysis revealed increased copy number gains in 11q (cyclin D1), which is associated with poor prognosis in melanoma. The presence of monster cells in melanoma was associated with aggressive behavior in the reported patient., (Copyright © 2012 John Wiley & Sons A/S.)

Biologic therapies targeting tumor necrosis factor (TNF)-alpha have become a mainstay in the management of a number of autoimmune diseases. We report a series of adverse skin eruptions in six patients (four females, two males, age: 21-58 years, mean: 39) receiving 4 months to 10 years (mean 3.1 years) of anti-TNF-alpha therapies (infliximab, n = 4; adalimumab, n = 1 or etanercept, n = 1). The following drug-associated diagnoses were made in eight skin biopsies performed at Massachusetts General Hospital between 3/2007 and 10/2010: pustular folliculitis, psoriasis, interface dermatitis, neutrophilic eccrine hidradenitis, Sweet's syndrome, lupus, vasculitis and palmoplantar pustulosis. The descriptions of neutrophilic eccrine hidradenitis-like and Sweet's-like hypersensitivity eruptions induced by anti-TNF-alpha therapies are the first such cases described in the literature. Each cutaneous eruption improved or resolved with switching to a different TNF-alpha inhibitor, discontinuation of the anti-TNF-alpha agent, and/or topical or systemic steroids. There was a clear chronologic relationship with, and clinical remission upon withdrawal or steroid suppression of the anti-TNF-alpha agents. The mechanism for such diverse cutaneous eruptions among this class of medications remains poorly understood. The cutaneous adverse reaction profile of TNF-alpha inhibitors is broad and should be considered in the histopathologic differential in this clinical setting., (Copyright © 2012 John Wiley & Sons A/S.)