Pediatric Dermatology最新文献

{"title":"Dupilumab-Associated Ocular Surface Disease in Pediatric Atopic Dermatitis: A Single-Center Asian Experience.","authors":"Amanda Xin Yi Yap, Deborah Tan, Mark Jean-Aan Koh, Lin Yi Yang, Koh Yi Zhe, Lynette Wei-Yi Wee","doi":"10.1111/pde.15814","DOIUrl":"10.1111/pde.15814","url":null,"abstract":"<p><strong>Background: </strong>Atopic dermatitis (AD) is the most common chronic inflammatory skin disorder presenting in childhood. Dupilumab is the first approved biologic agent for the treatment of moderate-to-severe AD in pediatric populations. While generally well-tolerated, dupilumab-associated ocular surface disease (DAOSD) is a known complication. In severe cases, this may necessitate discontinuation of treatment.</p><p><strong>Objective: </strong>We aim to describe DAOSD in our cohort of Asian pediatric patients with moderate-to-severe AD on dupilumab.</p><p><strong>Methods: </strong>We performed a single-center retrospective review of children and adolescents on dupilumab for moderate-to-severe AD who developed ophthalmological complications from 2019 to 2024. Most patients had prophylactic lubricant eyedrops. Data collected and analyzed included demographics, ophthalmologic findings, treatment, and outcomes of eye condition.</p><p><strong>Results: </strong>Of 216 patients treated with dupilumab, 16 (7.4%) developed ophthalmologist-diagnosed DAOSD. All patients had co-existing eyelid or head and neck eczema while 31.3% of these patients had pre-existing eye conditions. Eye redness (87.5%) was the most common presenting symptom, followed by pruritus (43.8%) and eye discharge (25%). The most common eye finding was conjunctivitis (87.5%), followed by limbitis (62.5%) and papillary reaction (62.5%). Two patients required temporary interruption of dupilumab. No patients required discontinuation of dupilumab treatment. The median time to resolution of eye complications was 14 weeks.</p><p><strong>Conclusion: </strong>In a real-world setting, the incidence and severity of DAOSD in pediatric patients appears to be lower than that of adults. Prophylactic use of lubricant eye drops, close monitoring and early referral to pediatric ophthalmologists can help reduce the incidence of severe eye disease requiring discontinuation of dupilumab.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"481-486"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic Spectrum of GNA11 R183C Mosaicism.","authors":"Donglin Zhang, Luis Fernando Sánchez-Espino, Marta Ivars, Elena Pope, Amy J Nopper, Lisa M Arkin, Megha M Tollefson, Cinzia E Lavarino, Maya Muldowney, Nagore Gené Olaciregui, Sonia Paco, Beth A Drolet, Eulàlia Baselga","doi":"10.1111/pde.15802","DOIUrl":"10.1111/pde.15802","url":null,"abstract":"<p><strong>Background: </strong>Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.</p><p><strong>Methods: </strong>This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing. Data include vascular anomaly features, imaging reports, and extracutaneous manifestations of the GNA11 R183C variant.</p><p><strong>Results: </strong>We identified 17 subjects (median age 18 years [range 6-67]) with somatic GNA11 R183C variant. All patients had vascular lesions of the skin that presented as pink-to-red in children and deeper red in adults. Most lesions were large, poorly demarcated, and reticulated patches that were often bilaterally distributed. Nevus anemicus was observed in 53% (N = 9) and dermal melanocytosis in 13.3% (N = 2) of individuals. 82% (N = 14) of patients had limb growth discrepancies, and 1 patient had marked thoracic hypoplasia. 47% (N = 8) of patients had facial involvement, and 41% (N = 7) had forehead involvement. One patient experienced seizures due to right hemispheric leptomeningeal angiomatosis consistent with Sturge-Weber syndrome. Other findings included glaucoma (29%, N = 5) and psychomotor delay (29%, N = 5).</p><p><strong>Conclusion: </strong>These findings contribute to our understanding of the clinical spectrum of GNA11 R183C capillary malformations (CMs); patients characteristically present with extensive, bilateral, poorly demarcated, pink-to-red CMs associated with nevus anemicus. Glaucoma and growth discrepancies (overgrowth or undergrowth) are common. Leptomeningeal angiomatosis and developmental delay can occur, appearing potentially less prevalent and severe than GNAQ-associated disease.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"475-480"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thromboembolic Risk in Juvenile Dermatomyositis Patients Treated With Intravenous Immunoglobulin.","authors":"Lais Lopes Almeida Gomes, Genevieve S Silva, Hallie A Carol, Sweta Subhadarshani, Beth H Rutstein, Katharina S Shaw","doi":"10.1111/pde.15865","DOIUrl":"10.1111/pde.15865","url":null,"abstract":"<p><p>This single-institution retrospective cohort study evaluates the risk of thromboembolic events (TE) in patients with juvenile dermatomyositis (JDM) treated with intravenous immunoglobulin (IVIg). We found no difference in the occurrence of TE in JDM patients treated with IVIg as compared to those without IVIg exposure; both cohorts had no TEs. Patients in both JDM cohorts had matched levels of other clotting risk factors, such as periods of limited mobility and hormonal contraceptive use. This research supports the growing body of evidence in the adult DM population demonstrating no significantly increased risk of TE attributable to IVIg and suggests that the occurrence of TE in JDM is low.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"577-579"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bullying in Children With Congenital Ichthyosis.","authors":"Andrea M Rustad, Hannah Soltani, Lynna J Yang, Jenna E McKenney, Ziyou Ren, Stephanie M Rangel, Amy S Paller","doi":"10.1111/pde.15920","DOIUrl":"10.1111/pde.15920","url":null,"abstract":"<p><strong>Background/objectives: </strong>Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self-esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation. Bullying is a frequent concern of families with ichthyosis but is rarely discussed or investigated.</p><p><strong>Methods: </strong>Bullying experience and the impact on children with ichthyosis and their caregivers were investigated utilizing survey methodology and validated questionnaires. Correlations were explored between demographic and ichthyosis characteristics, bullying exposure (Child Adolescent Bullying Scale-9), child and caregiver psychosocial functioning (Patient-Reported Outcomes Measurement Information System tools), and family quality of life (Family Dermatology Life Quality Index).</p><p><strong>Results: </strong>Overall, 49 dyads completed the survey, with a mean child age of 12 years, 43% female, and 35% non-white. Lamellar (27%), epidermolytic (16%), and with confetti (12%) ichthyosis subtypes were most common. Child-reported bullying exposure correlated strongly with poor peer relationships (r = -0.63) and moderately with stigma (r = 0.53). Caregiver depression and anxiety scores were moderately correlated with caregiver's perception of child's bullying (r = 0.46 and r = 0.52, respectively). Poor family quality of life (QoL) was moderately correlated with proxy severity, caregiver depression and anxiety, poor peer relationships, and poor mobility.</p><p><strong>Conclusions: </strong>Recognition of bullying and its potential impact on QoL is an important component of exploring the psychosocial impact of ichthyosis and providing holistic care.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"499-505"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Updated Scoping Review of Disparities in Pediatric Atopic Dermatitis.","authors":"Simone Gottlieb, Krystal Madkins, Peter Lio","doi":"10.1111/pde.15914","DOIUrl":"10.1111/pde.15914","url":null,"abstract":"<p><strong>Background/objectives: </strong>Health disparities are preventable differences in various aspects of health and encompass a wide range of inequitable outcomes experienced by marginalized patient populations. The objective of this systematic scoping review was to provide an updated summary of published research on disparities within pediatric atopic dermatitis (AD) in the United States.</p><p><strong>Methods: </strong>We performed a systematic search of full studies and abstracts according to PRISMA guidelines. Searches were developed with and performed by a medical librarian on various electronic databases for studies published from January 2021 through May 2024. Two authors independently screened titles and abstracts, followed by full-text review.</p><p><strong>Results: </strong>Fifty-three studies met our inclusion criteria, of which 49 examined disparities due to race/ethnicity, 18 due to socioeconomic factors (SES), 6 due to region/environment, 11 due to sex/gender, and 1 due to preferred language. Disparities discussed included AD prevalence, health outcomes, and access to health care.</p><p><strong>Conclusion: </strong>With an increasing focus on health disparities research, particularly within the context of the COVID-19 pandemic, an update on disparities within pediatric AD is needed. Examining the results of these studies can help point us to interventions that aim to reduce disparities and allow us to identify current knowledge gaps in disparities within pediatric AD.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"457-468"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"24^th ESPD Congress, 29-31 May 2025, Brussels, Belgium.","authors":"","doi":"10.1111/pde.15951","DOIUrl":"https://doi.org/10.1111/pde.15951","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":"42 Suppl 2 ","pages":"11-79"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Outcomes of Pediatric Systemic Anaplastic Large Cell Lymphoma.","authors":"Juan-Manuel Morón-Ocaña, Pablo Monsalve-Sosa, María-Luisa Martínez-Barranca, Isabel-María Coronel-Pérez, Amalia Pérez-Gil","doi":"10.1111/pde.15850","DOIUrl":"10.1111/pde.15850","url":null,"abstract":"<p><strong>Background/objectives: </strong>Anaplastic large cell lymphomas (ALCLs) present unique challenges due to their clinical and genetic heterogeneity. This study investigated the clinical characteristics of children diagnosed with systemic ALCL.</p><p><strong>Methods: </strong>Retrospective data from 14 pediatric patients diagnosed with systemic ALCL at Valme University Hospital were studied. Demographic, clinical, and treatment data were collected and statistically analyzed.</p><p><strong>Results: </strong>The mean age at diagnosis was 8.5 years, with a male predominance (78.6%). Cutaneous presentation occurred in 35.7% of cases, with characteristic rapidly growing subcutaneous nodules. B symptoms were present in 57.1% of patients, while 100% exhibited nodal involvement. Visceral and bone marrow involvement was observed in 71.4% and 7.1% of patients, respectively. Central nervous system (CNS) involvement was absent. Anaplastic lymphoma kinase (ALK) rearrangement was positive in all cases. Anthracycline-based chemotherapy resulted in 100% 5- and 10-year overall survival rates.</p><p><strong>Conclusions: </strong>Systemic ALCL in children often presents with advanced-stage disease, with cutaneous involvement in a significant proportion of cases. Prompt recognition of skin lesions is vital to expedite diagnosis and treatment initiation, ultimately improving patient outcomes. This study underscores the importance of vigilance and early intervention in managing pediatric ALCL.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"487-491"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.","authors":"Minu Jose Chiramel, Anju George, Dharshini Sathishkumar, Anna Simon, Sarah Mathai","doi":"10.1111/pde.15853","DOIUrl":"10.1111/pde.15853","url":null,"abstract":"<p><p>Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters. This case series emphasizes that early identification of this rare cause of alopecia and treating the metabolic abnormalities can improve bone health.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"615-619"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Retrospective Review of Oral N-Acetylcysteine for Habit-Driven Cutaneous Disorders.","authors":"Diana H Zarowin, Amy Buros Stein, Sarah E Sheppard, James R Treat","doi":"10.1111/pde.15852","DOIUrl":"10.1111/pde.15852","url":null,"abstract":"<p><p>Oral N-acetylcysteine (NAC) has shown efficacy for debilitating habit-driven and neuropsychiatric disorders in small, mostly adult studies. We retrospectively evaluated the therapeutic use and safety of oral NAC in 93 children from the Children's Hospital of Philadelphia. This study supports the use of oral NAC for habit-driven skin, hair, and nail abnormalities in pediatric patients.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"560-563"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Phenotypic Spectrum of SecVAUS: Report of Two Cases.","authors":"Marion Descos, Paul Kuentz, Christine Labrèze, Michèle Bigorre, Pierre Vabres, Didier Bessis","doi":"10.1111/pde.15801","DOIUrl":"https://doi.org/10.1111/pde.15801","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":"42 3","pages":"683-684"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}