{"title":"Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype.","authors":"Ilayda Akyon, Ozgenur Ozen, Mustafa Dogan, Zafer Turkoglu, Dilay Bastug, Fatmagul Kusku Cabuk, Alper Gezdirici","doi":"10.1111/pde.70027","DOIUrl":"https://doi.org/10.1111/pde.70027","url":null,"abstract":"<p><p>Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3-year-old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype-phenotype correlation in the ANTXR2 gene and HFS.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001189","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}
Grace Xiong, Mohamed Ali, Erfan Ghani Kakhki, Annie Xiong, Raed Alhusayen, David Croitoru, Cathryn Sibbald, Vincent Piguet, Ilya Mukovozov
{"title":"Prevalence, Age of Onset, Age at Diagnosis, and Family History of Hidradenitis Suppurativa in Pediatric Populations: A Systematic Review and Meta-Analysis.","authors":"Grace Xiong, Mohamed Ali, Erfan Ghani Kakhki, Annie Xiong, Raed Alhusayen, David Croitoru, Cathryn Sibbald, Vincent Piguet, Ilya Mukovozov","doi":"10.1111/pde.70022","DOIUrl":"https://doi.org/10.1111/pde.70022","url":null,"abstract":"<p><strong>Introduction: </strong>Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by recurrent nodules and abscesses in intertriginous areas, ultimately resulting in scarring and formation of sinus tracts. HS significantly impacts quality of life and can also affect pediatric populations. We aimed to determine the prevalence, family history, age of onset, and age at diagnosis of HS in pediatric populations.</p><p><strong>Methods: </strong>A random-effects meta-analysis of observational studies was conducted following MOOSE guidelines. Five databases were searched through May 2024.</p><p><strong>Results: </strong>Thirty seven observational studies were included, representing 6941 patients from 13 countries. The weighted mean age was 14.7 years (range: 4-18). Ethnoracial distribution included White (36.5%), Black (38.3%), Hispanic (13.9%), Asian (0.8%), Indigenous (0.2%), Middle Eastern (0.7%), multiracial (1.2%), and unspecified populations (8.4%). Among studies reporting severity, 42.5% had Hurley Stage I, 46.3% Stage II, and 11.2% Stage III. The prevalence of HS in pediatric populations was 0.03% (95% CI [0.0001, 0.0005]), with 38% of patients having a family history of HS (95% CI [0.30, 0.45]). Pediatric-onset HS predominantly affects females (78%, 95% CI [0.76, 0.80]). The average age of onset of HS in pediatric populations was 11.3 years (95% CI [10.15, 12.39]), but diagnosis typically occurred at 14.0 years (95% CI [12.65, 15.28]), indicating a delay in diagnosis. Female predominance of HS was associated with earlier age of onset and age at diagnosis, while no significant correlations between family history, age of onset, or age at diagnosis were identified.</p><p><strong>Conclusion: </strong>This study highlights the characteristics of pediatric-onset HS and emphasizes the need for earlier detection to expedite diagnosis and initiation of treatment.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001255","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":"Prevention of Atopic Dermatitis in High-Risk Infants: A Review of the Role of Lipid-Based Barrier Repair Therapy.","authors":"Chon-Wai Jeremy Chan, Marty O Visscher","doi":"10.1111/pde.70010","DOIUrl":"https://doi.org/10.1111/pde.70010","url":null,"abstract":"<p><strong>Background/objective: </strong>Growing evidence highlights the role of physiological lipids, namely ceramides, cholesterol, and free fatty acids, in maintaining skin barrier function and preventing atopic dermatitis (AD). Current evidence on the efficacy, safety, and clinical relevance of stratum corneum (SC) lipid-based therapies to prevent AD and increase skin barrier integrity in high-risk infants was reviewed and synthesized.</p><p><strong>Methods: </strong>Searches with key words lipid-based therapy, atopic dermatitis, infant, and prevention were conducted to identify papers using PubMed, Embase, Cochrane Library, and Scopus databases from January 2000 to June 2024.</p><p><strong>Results: </strong>SC lipid-based therapies were reported to replenish deficient SC lipids, thereby improving skin barrier function, a critical aspect of AD management. These therapies reduced SCORAD scores, enhanced hydration, and improved epidermal cohesion, with some studies reporting comparable efficacy to topical corticosteroids when used as adjunct treatments. However, evidence supporting their effectiveness in preventing AD onset in infants remains limited, with only trends toward reduced AD incidence and food sensitization reported, without statistical significance. Importantly, SC lipid therapies are well tolerated, with no significant adverse effects noted, supporting their safety in infants and children.</p><p><strong>Conclusion: </strong>This review ascertained knowledge gaps that can direct research and resolve controversies regarding emollients. Mechanistic studies in high-risk and non-atopic infants, starting at birth, are warranted using within-subject comparisons and frequent evaluations, including SC sampling for proteomics and lipidomics outcomes for mechanistic insight. Studies should begin with relatively simple formulations, for example, containing only ceramides, cholesterol, and fatty acids matched to varying infant SC lipid profiles at birth and over time.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001275","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}
Magí Brufau-Cochs, Ángela Deya Martínez, Mariana Álvarez Vukov, Laura Martí-Sánchez, Claudia Fortuny Guasch, Eulàlia Baselga Torres
{"title":"Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).","authors":"Magí Brufau-Cochs, Ángela Deya Martínez, Mariana Álvarez Vukov, Laura Martí-Sánchez, Claudia Fortuny Guasch, Eulàlia Baselga Torres","doi":"10.1111/pde.70025","DOIUrl":"https://doi.org/10.1111/pde.70025","url":null,"abstract":"<p><p>A 14-year-old boy was initially diagnosed with erosive oral lichen planus based on clinical and histopathological findings. However, the atypical clinical course and resistance to immunosuppressive therapy raised suspicion for an autoinflammatory disorder or inborn error of immunity. Genetic testing revealed a pathogenic SH2D1A mutation, confirming X-linked lymphoproliferative disease type 1 (XLP-1) in the absence of Epstein-Barr virus exposure. This case highlights oral mucosal lesions as a potential early, EBV-independent manifestation of XLP-1 and emphasizes the importance of considering monogenic immune disorders in persistent, treatment-refractory mucosal disease.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001281","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}
Camilo E Alarcón-Pérez, Marta Ivars, Cinzia Lavarino, Sonia Paco, Antonio Martínez-Monseny, Eulàlia Baselga-Torres
{"title":"A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.","authors":"Camilo E Alarcón-Pérez, Marta Ivars, Cinzia Lavarino, Sonia Paco, Antonio Martínez-Monseny, Eulàlia Baselga-Torres","doi":"10.1111/pde.70035","DOIUrl":"https://doi.org/10.1111/pde.70035","url":null,"abstract":"<p><p>Proteus syndrome (PS) is a rare genetic disorder caused by mosaic AKT1 mutations, leading to progressive and asymmetric overgrowth. We report a mildly symptomatic 12-year-old male with left lower limb overgrowth and an epidermal nevus, whose diagnosis was confirmed through molecular diagnostics. Targeted NGS identified the pathogenic AKT1 c.49G>A mutation in affected tissues, supporting the diagnosis despite the absence of hallmark features like cerebriform connective tissue nevus. This case highlights the importance of genetic testing in subtle presentations of PS, enabling early diagnosis, monitoring, and intervention to mitigate potential complications.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992895","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}
Grace Eleanor Sessler Bruess, Kelly K Barry, Gerilyn M Olsen, Cristina M Foschi, Elizabeth Cook, Melodee Liegl, Amy Y Pan, Leah Lalor
{"title":"Evaluating Outcomes of Live-Attenuated Vaccine Administration in Pediatric Patients on Dupilumab for Atopic Dermatitis.","authors":"Grace Eleanor Sessler Bruess, Kelly K Barry, Gerilyn M Olsen, Cristina M Foschi, Elizabeth Cook, Melodee Liegl, Amy Y Pan, Leah Lalor","doi":"10.1111/pde.70033","DOIUrl":"10.1111/pde.70033","url":null,"abstract":"<p><p>Dupilumab is an IL-4Rα and IL-13 inhibitor FDA-approved for the treatment of atopic dermatitis (AD) in patients 6 months and older. Guidelines recommend against live-attenuated vaccines due to limited safety data. We conducted a retrospective chart review of 233 patients aged 6 months to 10 years receiving dupilumab for AD at Children's Wisconsin, which showed that 19 received live vaccines during the study period. Four patients reported adverse events, including one requiring hospitalization. This study aims to evaluate the effects of live vaccines in children on dupilumab therapy and to assess associated adverse events, including in patients receiving their primary series of vaccines, a setting not previously described.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964249","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":"Cutaneous Rosai-Dorfman Disease Mimicking Granulomatous Dermatoses: A Rare Case Report.","authors":"Vinolyn Dsouza, Jyothi Jayaraman, Eswari Loganathan, Preethi Rai Ariadka, Chandana Pai, Jacintha Martis, Rochelle Cheryl Monteiro, Prajna Shetty","doi":"10.1111/pde.70017","DOIUrl":"https://doi.org/10.1111/pde.70017","url":null,"abstract":"<p><p>Cutaneous Rosai-Dorfman disease (CRDD) is a rare non-Langerhans cell histiocytosis that mimics various granulomatous and neoplastic dermatoses, often leading to misdiagnosis. We report an 18-year-old male with a 13-year history of progressively enlarging erythematous plaques over the nasal bridge and right forearm, initially diagnosed as granulomatous inflammation. Histopathological examination revealed emperipolesis only after meticulous serial sectioning, and immunohistochemistry confirmed the diagnosis of CRDD. This case underscores the diagnostic challenges of CRDD, particularly in regions endemic for tuberculosis and leprosy, and highlights the importance of thorough histopathological and immunohistochemical evaluation in differentiating it from other dermatoses.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964288","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}
Pediatric DermatologyPub Date : 2025-09-01Epub Date: 2025-04-02DOI: 10.1111/pde.15926
Remi Parker, Hannah Russell Johns, Crystal Pourciau
{"title":"A Case of Lipschütz Ulcers in a 13-Year-Old Girl With PFAPA Syndrome.","authors":"Remi Parker, Hannah Russell Johns, Crystal Pourciau","doi":"10.1111/pde.15926","DOIUrl":"10.1111/pde.15926","url":null,"abstract":"<p><p>Lipschütz ulcers (LU), also known as reactive non-sexually related acute genital ulcerations, are an uncommon condition that primarily affects sexually inactive girls under the age of 20 years. In this report, we describe a 13-year-old female with a past medical history of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in early childhood who presented to the emergency department (ED) for sudden onset of genital ulcerations and labial swelling. Based on her clinical presentation, negative primary infectious workup, unresponsiveness to broad-spectrum antimicrobials, and concurrent viral infection, she was diagnosed with LU.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"1051-1054"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764529","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}
Pediatric DermatologyPub Date : 2025-09-01Epub Date: 2025-08-28DOI: 10.1111/pde.16040
Mohsen Afarideh, Katelyn R Anderson, Megha M Tollefson
{"title":"Trends in Healthcare Utilization and Treatments of Infantile Hemangioma in the United States: Analysis of the National Ambulatory Medical Care Survey (NAMCS) 2009-2019.","authors":"Mohsen Afarideh, Katelyn R Anderson, Megha M Tollefson","doi":"10.1111/pde.16040","DOIUrl":"10.1111/pde.16040","url":null,"abstract":"<p><strong>Background: </strong>Recent data demonstrate increased incidence of Infantile hemangioma (IH) over the past several decades. However, little is known about current trends in healthcare utilization and medication prescribing in patients with IH in the United States (US), particularly since the discovery and uptake of beta-blockers as standard of care treatment.</p><p><strong>Methods: </strong>We examined US ambulatory visits in infants (age ≤ 1 years) with any hemangioma (International Classification of Diseases [ICD] 9th Revision codes 228.00, 228.01, or 228.09 in the National Ambulatory Medical Care Survey [NAMCS] 2009-2015, and ICD 10th Revision code D18.0 in the NAMCS 2016-2019). We further trended the prescription of topical and systemic IH treatments during this period.</p><p><strong>Results: </strong>Years of visit were bundled into 5-year bins to minimize standard errors for the trend tests. The number of visits related to IH significantly increased from 878,725 (95% CI: 439,376-1,318,074) in 2009-2013 to 1,431,913 (95% CI: 940,036-1,923,790, p = 0.022) in 2014-2019. The number of visits with resulting timolol prescription concurrently significantly increased from 16,279 (95% CI: 0-40,600) to 424,845 (95% CI: 380,786-468,903, p < 0.001), while the increase in the number of propranolol prescriptions was nonsignificant (from 162,323 [95% CI: 0-331,537] to 208,139 [95% CI: 0-558,709], p = 0.652).</p><p><strong>Conclusions: </strong>The US healthcare utilization for IH has been on the rise between 2009 and 2019, likely owing to increased awareness, earlier diagnosis, and enhanced therapies. While topical beta-blocker prescriptions have significantly increased during that period of time, systemic beta-blocker prescription rates have not.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"946-955"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964321","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":"What are topical steroids?","authors":"","doi":"10.1111/pde.70020","DOIUrl":"https://doi.org/10.1111/pde.70020","url":null,"abstract":"<p><p>Topical steroids are used to treat many skin conditions. These medicines calm inflammation in the skin.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":"42 5","pages":"1071-1072"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131481","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}