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Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations. 可视化遗传学：皮肤镜作为毛细管畸形遗传变异预测工具的研究。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-08 DOI: 10.1111/pde.70036
Aretha On, Marie-Chantal Caussade, Allison Britt, Sarah E Sheppard, Denise Adams, Griffin Stockton Hogrogian, James R Treat
{"title":"Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations.","authors":"Aretha On, Marie-Chantal Caussade, Allison Britt, Sarah E Sheppard, Denise Adams, Griffin Stockton Hogrogian, James R Treat","doi":"10.1111/pde.70036","DOIUrl":"https://doi.org/10.1111/pde.70036","url":null,"abstract":"<p><strong>Background/objectives: </strong>Capillary malformations (CMs) are congenital malformations of capillaries typically visible as blanchable, pink to brown patches on the skin and/or mucosa. The genetic cause of CMs guides diagnosis, treatment, and recurrence counseling. However, identification may be limited by the availability of samples, the type of tests, and insurance coverage. We hypothesize that there are distinct dermoscopic features associated with specific genotypes of congenital CMs.</p><p><strong>Methods: </strong>A single-center, retrospective cohort study of 22 patients with CMs affecting the skin, a polarized dermoscopic photo of the lesion, and a single nucleotide variant in the EPHB4, GNA11/GNAQ, PIK3CA/PIK3R1, or RASA1 genes was performed. Three reviewers analyzed dermoscopic photos for the presence of apparent vessels, branching, lacunae, geometric shape formation, zones of dropout, follicle-sparing, vessel and background color, and length and width of vessels when discernable. Features were categorized by genotype.</p><p><strong>Results: </strong>EPHB4-CMs have visible lengthwise and widthwise cross sections of vessels that exhibit branching. RASA1-CMs generally present with merely a red/pink/brown hue without visible vessels. GNA11 or GNAQ-CMs generally present with pink coloration and generally only with visible widthwise cross sections of vessels without branching. Geometric PIK3CA-CMs exhibit distinct purple lacunae that indicate a lymphatic component, but the reticulated PIK3CA-CMs otherwise demonstrate a varied presentation.</p><p><strong>Conclusion: </strong>Our research identified distinct genotype-phenotype correlations for CMs by dermoscopy. Dermoscopy can narrow the differential diagnosis, guide genetic testing, and aid in the interpretation of variants of uncertain significance (VUS). This study demonstrates that dermoscopy holds promise in aiding genetic diagnosis and ultimately medical management.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252328","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}
引用次数: 0
Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review. Omalizumab治疗儿童皮肤肥大细胞增多症：病例报告和回顾。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-08 DOI: 10.1111/pde.70038
Janis Chang, Aliyah King, Adam Byrne, Carmen Liy-Wong
{"title":"Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review.","authors":"Janis Chang, Aliyah King, Adam Byrne, Carmen Liy-Wong","doi":"10.1111/pde.70038","DOIUrl":"https://doi.org/10.1111/pde.70038","url":null,"abstract":"<p><p>We report an 11-month-old boy with diffuse cutaneous mastocytosis whose severe pruritus and steroid dependence resolved following off-label treatment with omalizumab. A literature review identified five additional pediatric cases in which omalizumab led to complete symptom resolution in an average of 2 months and permitted discontinuation of systemic steroids. Although limited by the small sample size and lack of high-quality data, omalizumab presents as a well-tolerated and potentially effective steroid-sparing agent for pediatric cutaneous mastocytosis.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252355","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}
引用次数: 0
A Network-Based Cross-Sectional Geographic Examination of Access to Pediatric Dermatologists Across the US. 全美儿童皮肤科医生的网络横断面地理检查。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-07 DOI: 10.1111/pde.70026
Clayton Frazier, Congcong Miao, Megan S Evans, Emily Frazier
{"title":"A Network-Based Cross-Sectional Geographic Examination of Access to Pediatric Dermatologists Across the US.","authors":"Clayton Frazier, Congcong Miao, Megan S Evans, Emily Frazier","doi":"10.1111/pde.70026","DOIUrl":"https://doi.org/10.1111/pde.70026","url":null,"abstract":"<p><p>The geographic distribution of the US pediatric dermatologist workforce is imbalanced, leaving pediatric communities within regions of the country and entire states without access to pediatric dermatologic care. This study utilized geospatial mapping techniques to create 60-minute drive service areas around each of the 340 board-certified pediatric dermatologists found in the Society for Pediatric Dermatology's public database to determine how many US children aged 0 to 17 years have timely access to a pediatric dermatologist. Clear regional disparities exist, as 31.4% of the pediatric population resides beyond the one-hour drive of a pediatric dermatologist, and seven US states contain no pediatric dermatologist in the SPD database. These results can inform practitioners and advocates which pediatric communities are underserved and guide the deployment of targeted interventions to alleviate these inequities.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145244779","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}
引用次数: 0
How Congenital Skin Lesions Are Perceived by Health Professionals in the Delivery Room-The Reconnaissance Study. 产房的卫生专业人员如何感知先天性皮肤病变-调查研究。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-06 DOI: 10.1111/pde.16046
Brieuc Berthelot, Juliette Prémel, Maud Pichereau, Emma Moulinier, Pauline Vabres, Ludovic Martin
{"title":"How Congenital Skin Lesions Are Perceived by Health Professionals in the Delivery Room-The Reconnaissance Study.","authors":"Brieuc Berthelot, Juliette Prémel, Maud Pichereau, Emma Moulinier, Pauline Vabres, Ludovic Martin","doi":"10.1111/pde.16046","DOIUrl":"https://doi.org/10.1111/pde.16046","url":null,"abstract":"<p><strong>Objective: </strong>To assess self-reported knowledge and reactions of health professionals in the delivery room (HPDR) when facing a congenital skin lesion (CSL).</p><p><strong>Methods: </strong>A cross-sectional study was conducted at Angers University Hospital Maternity, Angers, France, between October and December 2023. All HPDR staff, including gynecologists, pediatricians, midwives, and nurses, were invited to complete an anonymous semiquantitative survey.</p><p><strong>Results: </strong>We obtained a total of 88 participants out of 180 HPDR (response rate: 48.8%). Forty-six percent of CSL definitions were incorrect, although 66% of HPDR had received some level of training about CSLs. The mean self-assessed knowledge score was 2.4/10. Emotional responses to CSLs were varied, including professional interest (34%) but also unease and shock (11%). HPDR acknowledged that their reactions could have an impact on parents (mean score: 8.3/10), and they indicated a desire for supplementary training in recognizing CSLs (mean score: 8.4/10) and adopting communication strategies (mean score: 8.3/10).</p><p><strong>Conclusions: </strong>We confirm that HPDR have a lack of knowledge regarding CSL and difficulties managing these lesions. This lack of knowledge can have consequences for patients and parents, and for HPDR themselves. Body image and the potential physical and psychological impacts of visible lesions are increasingly recognized as critical aspects of care in dermatology. HPDR report a lack of knowledge about CSLs and a desire for training to be able to support families.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239327","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}
引用次数: 0
Laryngo-Onycho-Cutaneous Syndrome Managed With Thalidomide. 沙利度胺治疗喉-甲-皮综合征。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-06 DOI: 10.1111/pde.70069
Ellen Chinchilli, Christopher J Yao, Maria R Cordisco
{"title":"Laryngo-Onycho-Cutaneous Syndrome Managed With Thalidomide.","authors":"Ellen Chinchilli, Christopher J Yao, Maria R Cordisco","doi":"10.1111/pde.70069","DOIUrl":"https://doi.org/10.1111/pde.70069","url":null,"abstract":"<p><p>Laryngo-onycho-cutaneous syndrome (LOCS), a subtype of junctional epidermolysis bullosa, results from mutations affecting laminin-332 subunits which alter epidermal-dermal adhesion. LOCS phenotype includes cutaneous, ocular, and laryngeal granuloma formation and scarring. Management relies on multidisciplinary symptomatic care, and successful disease-modifying therapies are infrequently documented. Here, we describe a 7-year-old female with characteristic manifestations of LOCS who has had a significant response to oral thalidomide.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233197","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}
引用次数: 0
Adolescent Satisfaction After Deroofing Surgery for Hidradenitis Suppurativa. 青少年对化脓性汗腺炎的满意度。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-06 DOI: 10.1111/pde.70019
Courtney N Haller, Cassidy M Nguyen, Maryann E England, Lucia Z Diaz, Venessa Peña-Robichaux
{"title":"Adolescent Satisfaction After Deroofing Surgery for Hidradenitis Suppurativa.","authors":"Courtney N Haller, Cassidy M Nguyen, Maryann E England, Lucia Z Diaz, Venessa Peña-Robichaux","doi":"10.1111/pde.70019","DOIUrl":"https://doi.org/10.1111/pde.70019","url":null,"abstract":"<p><p>Hidradenitis suppurativa (HS) significantly impairs quality of life (QOL) with frequent skin pain and drainage. One therapeutic option for treatment is surgical deroofing. A recent study showed high rates of patient satisfaction with the procedure, albeit a small adolescent cohort. We aim to assess overall satisfaction with surgical deroofing in adolescent patients with HS using a retrospective survey-based study including questions pertaining to recovery, pain, QOL, and satisfaction with the procedure. While our study was limited in sample size, there is evidence of satisfaction and tolerability among a majority of our adolescent patients who underwent surgical deroofing.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239409","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}
引用次数: 0
An Alopecic Circular Plaque on the Scalp of a 2-Year-Old Male. 2岁男性头皮上的斑秃圆形斑块。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-06 DOI: 10.1111/pde.70051
Molly Antonson, Jennifer M Fernandez, Mollie Oudenhoven
{"title":"An Alopecic Circular Plaque on the Scalp of a 2-Year-Old Male.","authors":"Molly Antonson, Jennifer M Fernandez, Mollie Oudenhoven","doi":"10.1111/pde.70051","DOIUrl":"https://doi.org/10.1111/pde.70051","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239324","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}
引用次数: 0
Triamcinolone and Dexamethasone Hypersensitivity: A Pediatric Case Report. 曲安奈德和地塞米松过敏：一个儿科病例报告。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-06 DOI: 10.1111/pde.70055
Merve Karaca Şahin, Muhammed Fatih Erbay, Hamit Bologur, Nilay Çalışkan, Güler Yıldırım, Deniz Ozceker
{"title":"Triamcinolone and Dexamethasone Hypersensitivity: A Pediatric Case Report.","authors":"Merve Karaca Şahin, Muhammed Fatih Erbay, Hamit Bologur, Nilay Çalışkan, Güler Yıldırım, Deniz Ozceker","doi":"10.1111/pde.70055","DOIUrl":"https://doi.org/10.1111/pde.70055","url":null,"abstract":"<p><p>Although corticosteroids are frequently used locally and systemically for their anti-inflammatory and immunosuppressive effects, hypersensitivity is rare. In our case, a 16-year-old girl experienced anaphylaxis after injection of triamcinolone acetonide. The diagnosis of an IgE-mediated allergy to triamcinolone acetonide was confirmed through intradermal testing. Intradermal tests and drug provocation tests were performed against other corticosteroids, but only the provocation test with dexamethasone resulted in delayed urticaria. This case indicates the potential for different types of hypersensitivity reactions to both triamcinolone and dexamethasone. Consequently, the importance of a comprehensive allergic evaluation with other corticosteroids is emphasized when a corticosteroid allergy is suspected.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239400","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}
引用次数: 0
Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome. Dupilumab可减少Sjögren-Larsson综合征双胞胎的瘙痒。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-05 DOI: 10.1111/pde.70073
Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S Paller
{"title":"Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome.","authors":"Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S Paller","doi":"10.1111/pde.70073","DOIUrl":"https://doi.org/10.1111/pde.70073","url":null,"abstract":"<p><p>Sjögren-Larsson Syndrome (SLS), now termed ALDH3A2-syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4-year-old twin girls with genetically confirmed SLS who showed significant and lasting improvement in itch following treatment with dupilumab, a biologic targeting interleukin-4 receptor signaling. Within 6 months, pruritus severity scores declined markedly, improving sleep and quality of life without adverse effects, supporting further investigation of dupilumab for SLS-associated itch.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233180","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}
引用次数: 0
Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations. 罕见的化脓性汗腺炎和高igd综合征共存纯合MVK V377I和复合杂合MEFV （M680I/E148Q）突变
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-10-05 DOI: 10.1111/pde.70063
Gamze Tas-Aygar, Müzeyyen Gönül, Emine Nur Sunar Yayla, Haktan Bağış Erdem, Selda Pelin Kartal
{"title":"Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.","authors":"Gamze Tas-Aygar, Müzeyyen Gönül, Emine Nur Sunar Yayla, Haktan Bağış Erdem, Selda Pelin Kartal","doi":"10.1111/pde.70063","DOIUrl":"https://doi.org/10.1111/pde.70063","url":null,"abstract":"<p><p>We report a rare case of a 12-year-old girl with the coexistence of hidradenitis suppurativa (HS) and hyperimmunoglobulin D syndrome (HIDS), harboring a homozygous MVK V377I mutation and compound heterozygous MEFV mutations, both classified as pathogenic. Despite a partial response to adalimumab and anakinra, complete remission of both febrile episodes and HS lesions was achieved with canakinumab therapy. This case emphasizes the importance of IL-1β-mediated inflammation in the pathogenesis of syndromic HS and highlights the role of multigenic contributions. Early recognition and targeted treatment may improve outcomes in patients with overlapping autoinflammatory conditions.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233232","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}
引用次数: 0
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