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Evaluating the Readability of the iPledge Comprehension Assessment and its Impact on Isotretinoin Accessibility. 评估 iPledge 理解力评估的可读性及其对异维A酸可及性的影响。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-23 DOI: 10.1111/pde.15765
Peter Baek, Nidhi Shah, A Yasmine Kirkorian
{"title":"Evaluating the Readability of the iPledge Comprehension Assessment and its Impact on Isotretinoin Accessibility.","authors":"Peter Baek, Nidhi Shah, A Yasmine Kirkorian","doi":"10.1111/pde.15765","DOIUrl":"https://doi.org/10.1111/pde.15765","url":null,"abstract":"<p><p>Isotretinoin, the standard treatment for severe nodular acne, is subject to stringent iPLEDGE regulations due to its teratogenic risks, requiring monthly assessments for patients of childbearing potential. Analysis of the iPLEDGE Comprehension Assessment (iPCA) revealed an average readability score of grade 8.5, exceeding the recommended grade 6 level for optimal patient comprehension. The complex language of iPCA may hinder patients from accessing treatment, contributing to delays and potential discontinuation, especially among female patients. While the overall number of isotretinoin-exposed pregnancies has decreased since the inception of iPledge, several hundred pregnancies continue to be reported, and simplification of iPCA presents one avenue to improve patient comprehension, safety, and ensuring equitable access to isotretinoin.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292937","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 Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation. 家族性 RTEL1 基因突变儿童先天性角化病的非典型表现
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-18 DOI: 10.1111/pde.15750
Faiza Ahmed,Kristina Blegen,Michelle Tarbox
{"title":"An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.","authors":"Faiza Ahmed,Kristina Blegen,Michelle Tarbox","doi":"10.1111/pde.15750","DOIUrl":"https://doi.org/10.1111/pde.15750","url":null,"abstract":"Dyskeratosis congenita (DC) is a rare inherited bone marrow disease that classically presents with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. It is most commonly caused by a defect in the DKC1 gene involved in telomere stability. Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12-year-old female with a familial heterozygous RTEL1 (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254631","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
Infantile hemangioma precursor lesions on day of life 1: A Mayo Clinic retrospective case series 出生第 1 天的婴儿血管瘤前体病变：梅奥诊所的回顾性病例系列
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-18 DOI: 10.1111/pde.15616
Frank Z. Jing, Beija K. Villalpando, Megha M. Tollefson
{"title":"Infantile hemangioma precursor lesions on day of life 1: A Mayo Clinic retrospective case series","authors":"Frank Z. Jing, Beija K. Villalpando, Megha M. Tollefson","doi":"10.1111/pde.15616","DOIUrl":"https://doi.org/10.1111/pde.15616","url":null,"abstract":"BackgroundInfantile hemangiomas (IHs), the most prevalent vascular tumors in infancy, are generally understood to be absent at birth, appearing in the initial weeks of life during their proliferative stage. While the classic presentation is recognizable, the precursor lesion of IHs may be misinterpreted as other entities, including vascular malformations.MethodsA retrospective, single‐center study was conducted, examining neonates with photographed IH precursor lesions on day of life (DOL) 1 and matured classical IHs. The study spanned from 2017 to 2023.ResultsThe case series is comprised of nine neonates all exhibiting precursor lesions on DOL 1. A comparative display of photographs featuring precursor lesions and classic IH is presented. Further tabulated information for each case includes IH locations, subsequent treatment modalities, and further diagnostic workup if necessary.ConclusionsImproving recognition of precursor lesions increases diagnostic accuracy, decreasing unnecessary workup. This, in turn, allows dermatologists to confidently employ close follow‐up management strategies. Additionally, in cases of extensive involvement, recognition of the precursor lesion allows for expedited investigation for syndromes such as PHACE (posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities) and LUMBAR (lower body IH, urogential anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies).","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254630","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
Survey of Sun Exposure Levels, Sun Protection Behavior, and Skin Cancer Risk Awareness in Junior Tennis Players. 青少年网球运动员日晒水平、防晒行为和皮肤癌风险意识调查。
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-18 DOI: 10.1111/pde.15756
Mia H Thiele,Margaret S Lee,Jens J Thiele
{"title":"Survey of Sun Exposure Levels, Sun Protection Behavior, and Skin Cancer Risk Awareness in Junior Tennis Players.","authors":"Mia H Thiele,Margaret S Lee,Jens J Thiele","doi":"10.1111/pde.15756","DOIUrl":"https://doi.org/10.1111/pde.15756","url":null,"abstract":"Despite a growing number of young adults developing skin cancers, little is known about the sun-protective behavior of high school athletes exposed to high levels of UV radiation, such as junior tennis players. To investigate the frequency and quality of their sun protective behaviors, a web-based, anonymous survey was conducted among tennis players at high school varsity matches and United States Tennis Association tournaments in Southern California. Although 92.6% of the 81 respondents indicated they play during peak sun intensity hours, 46.9% stated they do not regularly wear sunscreen, 27.2% do not routinely wear hats or visors, only 9.9% wear protective eyewear, and 4.9% wear UV-protective clothing; furthermore, 87.5% of junior tennis players stated they are not very familiar with skin cancer, but 73.8% would like to learn more about it. The results of this study demonstrate a lack of consistent sun protective behavior among junior tennis players, providing a rationale for the development of targeted educational campaigns to increase skin cancer risk awareness and more effective sun-protective behavior.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254629","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
Obesity in Pediatric Hidradenitis Suppurativa: A Scoping Review 小儿化脓性扁桃体炎患者的肥胖问题：范围界定综述
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-12 DOI: 10.1111/pde.15746
Shanti Mehta, Dea Metko, Joseph M. Lam
{"title":"Obesity in Pediatric Hidradenitis Suppurativa: A Scoping Review","authors":"Shanti Mehta, Dea Metko, Joseph M. Lam","doi":"10.1111/pde.15746","DOIUrl":"https://doi.org/10.1111/pde.15746","url":null,"abstract":"The relationship between HS and obesity, while well established in adult patients, has drawn increased attention in pediatric patients given the rising prevalence of pediatric obesity worldwide. This review aims to consolidate existing evidence of the relationship between HS and obesity in the pediatric population and to hypothesize about reasons for an association between the two conditions. Our cohort comprised 2911 patients with a mean age of 11.4 years at the age of onset of HS, and based on body mass index (BMI), 42.3% of patients were classified as obese (BMI &gt; 30), and 14% were overweight (BMI 25–29.9). Our findings indicate an association between obesity and HS in pediatric patients, which may be explained through numerous mechanisms, including shared genetic factors, hereditary relationships, and the impact of HS on adolescents’ quality of life.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191672","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
Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome 患有 APECED 综合征的孪生兄弟中的难治性大面积皮癣病
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-11 DOI: 10.1111/pde.15736
Aysha Najeeb, Vishal Gaurav, Pankhuri Dudani, Shukla Das, Somesh Gupta
{"title":"Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome","authors":"Aysha Najeeb, Vishal Gaurav, Pankhuri Dudani, Shukla Das, Somesh Gupta","doi":"10.1111/pde.15736","DOIUrl":"https://doi.org/10.1111/pde.15736","url":null,"abstract":"Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent infections with <jats:italic>Candida</jats:italic> spp., often linked to primary immunodeficiencies. We report a case of two 8‐year‐old monozygotic twin brothers presenting with extensive dermatophytosis, later diagnosed with autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) syndrome due to a homozygous p.M1V mutation in the <jats:italic>AIRE</jats:italic> gene. The twins exhibited widespread skin and nail infection, along with malabsorption, dental caries, and other autoimmune manifestations. This case highlights the novel presentation of extensive dermatophytosis in APECED, underscoring the variability in clinical expression even within a single family.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191676","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
Dissecting Cellulitis and Alopecic and Aseptic Nodules of the Scalp in Pediatric Patients: An Atypical Age of Presentation Observed in Two Cases 小儿患者头皮的剥脱性蜂窝织炎、脱发性和无菌性结节：两个病例的非典型发病年龄
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-11 DOI: 10.1111/pde.15754
Anabell Andrea Lima‐Galindo, Leslie Monserrat Garza‐García, Valeria Olvera‐Rodríguez, Miguel Bonifacio Favela‐Galvez, Jorge Ocampo‐Candiani, Erika Alba‐Rojas
{"title":"Dissecting Cellulitis and Alopecic and Aseptic Nodules of the Scalp in Pediatric Patients: An Atypical Age of Presentation Observed in Two Cases","authors":"Anabell Andrea Lima‐Galindo, Leslie Monserrat Garza‐García, Valeria Olvera‐Rodríguez, Miguel Bonifacio Favela‐Galvez, Jorge Ocampo‐Candiani, Erika Alba‐Rojas","doi":"10.1111/pde.15754","DOIUrl":"https://doi.org/10.1111/pde.15754","url":null,"abstract":"Dissecting cellulitis of the scalp (DCS) is a rare inflammatory condition that progresses from papules and pustules to nodules and abscesses, ultimately leading to cicatricial alopecia. It primarily affects African men between the ages of 15 and 62, with exceptionally low prevalence in children. A milder form, described as “alopecic and aseptic nodules of the scalp” (AANS), presents as aseptic nodules associated with non‐scarring alopecia and has a good prognosis. We report two atypical cases of DCS in Hispanic pediatric patients: an 18‐month‐old female infant and an 11‐year‐old male child who had a rapid and favorable clinical resolution consistent with AANS.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191678","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
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report 局灶性真皮发育不全（戈尔茨综合征）的表型、遗传和估计患病率：单中心报告
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-11 DOI: 10.1111/pde.15752
Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund
{"title":"Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report","authors":"Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund","doi":"10.1111/pde.15752","DOIUrl":"https://doi.org/10.1111/pde.15752","url":null,"abstract":"BackgroundFocal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in <jats:italic>PORCN</jats:italic>.MethodsWe characterized a case series of four genetically confirmed FDH patients (three females, one male) at Aarhus University Hospital, Denmark. We estimated the FDH prevalence from our local cohort and nationwide registry data.ResultsThree patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted <jats:italic>PORCN</jats:italic> analysis. One patient had an atypical presentation with several malformations but only subtle skin changes and was diagnosed following trio exome‐sequencing analysis. Skin atrophy with fat herniations and telangiectasias were typical cutaneous findings. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly. Eye abnormalities included coloboma and microphthalmos. Facial dysmorphology was defined by asymmetry, thin upper lip, and malformed ears. One patient developed a giant cell bone tumor, which is a rare feature of FDH. Dental findings included enamel hypoplasia with vertical grooving and irregular crowns. Four <jats:italic>PORCN</jats:italic> variants were identified, including three not previously reported in the literature.We estimated a regional point prevalence in Western Denmark of 1.6 cases per million population (95% confidence intervals (CI): 0.7–3.7 per million) and a nationwide registry‐based point prevalence of 1.2 cases per million population (95% CI: 0.6–2.4 per million).ConclusionsFDH is an extremely rare and complex multisystem disorder of variable presentation, which requires close multidisciplinary collaboration for diagnosis and patient care.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191675","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
The Successful Use of Upadacitinib as Monotherapy for Hidradenitis Suppurativa and Ulcerative Colitis in the Setting of Refractory Disease 奥帕他替尼作为单药疗法成功用于治疗难治性化脓性扁桃体炎和溃疡性结肠炎
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-11 DOI: 10.1111/pde.15759
Meryem T. Ok, Paul B. Googe, Christopher J. Sayed, Craig Burkhart, Ajay S. Gulati, Elizabeth L. Nieman
{"title":"The Successful Use of Upadacitinib as Monotherapy for Hidradenitis Suppurativa and Ulcerative Colitis in the Setting of Refractory Disease","authors":"Meryem T. Ok, Paul B. Googe, Christopher J. Sayed, Craig Burkhart, Ajay S. Gulati, Elizabeth L. Nieman","doi":"10.1111/pde.15759","DOIUrl":"https://doi.org/10.1111/pde.15759","url":null,"abstract":"Hidradenitis suppurativa (HS) and ulcerative colitis (UC) are associated chronic inflammatory conditions with complex disease courses and potential for overlapping therapeutic management. We describe a case of severe pediatric HS and UC that were poorly controlled despite several standard‐of‐care therapies, including infliximab and ustekinumab. Transitioning the patient to upadacitinib monotherapy resulted in clinical improvement of both her UC and HS within 3 months, and she was then able to be weaned off her other systemic therapies. While upadacitinib is not currently FDA‐approved for HS or pediatric UC, this case report shows promise for upadacitinib monotherapy for both of these complex inflammatory disorders.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191673","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
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature 同时累及 MEF2C 和 RASA1 的 5q14.3 微缺失综合征。临床病例及文献综述
IF 1.5 4区 医学
Pediatric Dermatology Pub Date : 2024-09-11 DOI: 10.1111/pde.15748
José González Rodríguez, Eduardo de‐la‐Rosa Fernández, Irene Loizate Sarrionandia, Elsa Benítez García, Maria Herrero Moyano, Héctor Juan Morales Moreno, José Suárez Hernández
{"title":"5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature","authors":"José González Rodríguez, Eduardo de‐la‐Rosa Fernández, Irene Loizate Sarrionandia, Elsa Benítez García, Maria Herrero Moyano, Héctor Juan Morales Moreno, José Suárez Hernández","doi":"10.1111/pde.15748","DOIUrl":"https://doi.org/10.1111/pde.15748","url":null,"abstract":"5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as <jats:italic>MEF2C</jats:italic> and <jats:italic>RASA1</jats:italic> and is potentially classified as a neurocutaneous syndrome. Deletion of the <jats:italic>MEF2C</jats:italic> gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders. <jats:italic>RASA1</jats:italic> deletion is linked to capillary malformations with arteriovenous malformations (CM‐AVM). Until now, only 17 cases have been described with deletions of both genes. We present the first case described in Spain with the microdeletion in the 5q14.3 cytoband simultaneously affecting both <jats:italic>MEF2C</jats:italic> and <jats:italic>RASA1</jats:italic>, exhibiting the typical manifestations of this entity, and review the published cases to date.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191674","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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