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Congenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation. 先天性红细胞生成性卟啉症：一例补充硫酸亚铁后出现肝功能衰竭和血管性水肿的病例。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-03 DOI: 10.1111/pde.15749
Etleva Jorgaqi, Karen Ezenne, Madeline Brown, Albert E Zhou, Amor Khachemoune
{"title":"Congenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation.","authors":"Etleva Jorgaqi, Karen Ezenne, Madeline Brown, Albert E Zhou, Amor Khachemoune","doi":"10.1111/pde.15749","DOIUrl":"https://doi.org/10.1111/pde.15749","url":null,"abstract":"<p><p>This report describes an unusual case of a young anemic female who experienced acute hepatic insufficiency and angioedema after ferrous sulfate consumption. Her primary diagnosis of congenital erythropoietic porphyria (CEP) was revealed after a detailed dermatologic examination and laboratory data. The patient was treated with IV methylprednisolone along with red blood cell transfusion, vitamin supplementation, and wound care. Our case report emphasizes the importance of physician awareness of CEP since it is a rare disease that tends to mimic other chronic porphyrias, various drug reactions, and collagenopathies.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120412","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
Successful utilization of topical trametinib for neurofibromatosis type I-associated plexiform neurofibroma. 成功利用局部曲美替尼治疗神经纤维瘤病Ⅰ型相关丛状神经纤维瘤。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-03 DOI: 10.1111/pde.15710
Leonid Melnikov, Lars Brichta, Nathan J Schloemer
{"title":"Successful utilization of topical trametinib for neurofibromatosis type I-associated plexiform neurofibroma.","authors":"Leonid Melnikov, Lars Brichta, Nathan J Schloemer","doi":"10.1111/pde.15710","DOIUrl":"https://doi.org/10.1111/pde.15710","url":null,"abstract":"<p><p>An 11-year-old female with neurofibromatosis type 1 (NF-1) and history of optic glioma presented with a progressive cutaneous plexiform neurofibroma of the breast. The lesion was treated with topical application of a mitogen-activated protein kinase inhibitor, trametinib, resulting in stable, non-progression cutaneous plexiform neurofibroma for greater than 2 years. This case demonstrates the potential application of topical trametinib for NF1-associated superficial cutaneous plexiform neurofibroma without the toxicities associated with systemic treatment.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120420","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
Newborn Filiform Periungual Hyperkeratosis: A Prospective Observational Study. 新生儿丝状角化周角化过度症：前瞻性观察研究
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-03 DOI: 10.1111/pde.15745
Romina Cabrera, Margarita Larralde, Andrés Carvajal Jaimes, Gabriel Casas
{"title":"Newborn Filiform Periungual Hyperkeratosis: A Prospective Observational Study.","authors":"Romina Cabrera, Margarita Larralde, Andrés Carvajal Jaimes, Gabriel Casas","doi":"10.1111/pde.15745","DOIUrl":"https://doi.org/10.1111/pde.15745","url":null,"abstract":"<p><strong>Introduction: </strong>Newborn filiform periungual hyperkeratosis (NFPH) incidence and prevalence during the neonatal period remain unknown and have not been described in current literature. Timely diagnosis and treatment are essential to avoid complications during the neonatal period, such as acute paronychia.</p><p><strong>Objective: </strong>The aim of our prospective observational study was to describe the characteristics of NFPH in neonates born in a referral hospital in Buenos Aires.</p><p><strong>Results: </strong>One hundred patients were included. Most of them were male (60%). NFPH consists of hard, filiform elements, mostly present bilaterally in lateral nail folds. It was found in 46% of included patients. Prevalence was higher in the right hand. Due to a trend towards easy detachment and fracture, erosions were seen in several cases. Two cases of acute paronychia secondary to NFPH were diagnosed, with favorable outcomes after topical antibiotic treatment.</p><p><strong>Conclusion: </strong>The importance of clinical examination for screening of this local predisposing factor for infection in neonatal patients is highlighted.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120418","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
Composite hemangioendothelioma in a 2-year-old girl. 一名 2 岁女孩的复合型血管内皮瘤。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-03 DOI: 10.1111/pde.15725
Alejandra Anabel Panizzardi, Natalia Torres, María Centeno Del Valle, Félix Vigovich, Verónica Besolari, Margarita Larralde
{"title":"Composite hemangioendothelioma in a 2-year-old girl.","authors":"Alejandra Anabel Panizzardi, Natalia Torres, María Centeno Del Valle, Félix Vigovich, Verónica Besolari, Margarita Larralde","doi":"10.1111/pde.15725","DOIUrl":"https://doi.org/10.1111/pde.15725","url":null,"abstract":"<p><p>Composite hemangioendothelioma (CHE) is a rare locally aggressive vascular neoplasm of intermediate malignancy. We describe a 2-year-old patient diagnosed with this tumor. Careful documentation of patients with CHE is crucial to better define the prognosis and treatment of this entity.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126336","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
Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1. 一个 1 型神经纤维瘤病家族中 NF1 基因的不同基因突变。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-03 DOI: 10.1111/pde.15734
Juan de Dios García-Díaz, Javier Balsa-Vázquez, Ana Rodríguez-Villa, Esther Férriz
{"title":"Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1.","authors":"Juan de Dios García-Díaz, Javier Balsa-Vázquez, Ana Rodríguez-Villa, Esther Férriz","doi":"10.1111/pde.15734","DOIUrl":"https://doi.org/10.1111/pde.15734","url":null,"abstract":"<p><p>The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is known. We present a case of a girl with isolated café-au-lait spots, whose father was diagnosed with NF1. However, both were found to carry different de novo mutations in the NF1 gene. This possibility has significant implications for the diagnostic process and genetic counseling.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120415","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
Evolving nodule on the lip of an 11-year-old girl. 一名 11 岁女孩嘴唇上不断发展的结节。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-02 DOI: 10.1111/pde.15733
Patrícia Amoedo, Catarina Costa, Margarida Tavares, Maria João Cruz, Alberto Mota
{"title":"Evolving nodule on the lip of an 11-year-old girl.","authors":"Patrícia Amoedo, Catarina Costa, Margarida Tavares, Maria João Cruz, Alberto Mota","doi":"10.1111/pde.15733","DOIUrl":"https://doi.org/10.1111/pde.15733","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120416","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
Oral sirolimus for the treatment of juvenile xanthogranuloma: Report of two pediatric cases. 口服西罗莫司治疗幼年黄疽：两个儿科病例的报告。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-01 Epub Date: 2024-03-05 DOI: 10.1111/pde.15579
Michelle Toker, Fatema Esaa Hassonjee, John Amodio, Morris C Edelman, Kristina I Emeghebo, Carolyn Fein Levy, Sheila Shaigany
{"title":"Oral sirolimus for the treatment of juvenile xanthogranuloma: Report of two pediatric cases.","authors":"Michelle Toker, Fatema Esaa Hassonjee, John Amodio, Morris C Edelman, Kristina I Emeghebo, Carolyn Fein Levy, Sheila Shaigany","doi":"10.1111/pde.15579","DOIUrl":"10.1111/pde.15579","url":null,"abstract":"<p><p>Juvenile xanthogranuloma (JXG) with extensive cutaneous or visceral organ involvement is often associated with high morbidity and treatment commonly involves surgical excision, radiotherapy, systemic steroids, or chemotherapy. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, is an oral antitumor and immunosuppressive therapy used to treat various neoplastic disorders, including histiocytic disorders. We report two pediatric cases of JXG successfully treated with oral sirolimus monotherapy, and postulate that sirolimus may induce rapid disease resolution and long-term remission for patients with both skin-limited and multisystemic JXG. Our findings warrant further investigation of the relationship between the mTOR pathway and JXG.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040012","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
Superficial erosions in a pediatric patient. 一名儿科患者的表皮糜烂。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-01 Epub Date: 2024-05-07 DOI: 10.1111/pde.15636
Patrick McMullan, Heather Gochnauer, Zoe Brown-Joel, Patrick O'Donnell, Leah Belazarian
{"title":"Superficial erosions in a pediatric patient.","authors":"Patrick McMullan, Heather Gochnauer, Zoe Brown-Joel, Patrick O'Donnell, Leah Belazarian","doi":"10.1111/pde.15636","DOIUrl":"10.1111/pde.15636","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859225","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 case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management. 一例哈特派新生儿局限性皮肤病：诊断和创造性的皮肤管理。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-01 Epub Date: 2024-07-04 DOI: 10.1111/pde.15681
Jesse Grist, Rebecca Green, Abhay Lodha, Charlene Hunter, Katherine Lach, Thuy Phung, Renee Perrier, Michele Ramien
{"title":"A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.","authors":"Jesse Grist, Rebecca Green, Abhay Lodha, Charlene Hunter, Katherine Lach, Thuy Phung, Renee Perrier, Michele Ramien","doi":"10.1111/pde.15681","DOIUrl":"10.1111/pde.15681","url":null,"abstract":"<p><p>Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with biallelic ZMPSTE24 mutations to highlight the clinical and histopathological features of restrictive dermopathy and share our skin-directed management strategies.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535024","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
From flare to care: Dermatologists' impact on pediatric atopic dermatitis hospital admissions. 从发作到护理：皮肤科医生对小儿特应性皮炎住院治疗的影响。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2024-09-01 Epub Date: 2024-07-25 DOI: 10.1111/pde.15694
Jill K Wieser, Benjamin I Larson, Sonal D Shah
{"title":"From flare to care: Dermatologists' impact on pediatric atopic dermatitis hospital admissions.","authors":"Jill K Wieser, Benjamin I Larson, Sonal D Shah","doi":"10.1111/pde.15694","DOIUrl":"10.1111/pde.15694","url":null,"abstract":"<p><strong>Background/objectives: </strong>Atopic dermatitis (AD) is a common chronic skin disease in the pediatric population; however, rates of admissions for flares in patients established with dermatology compared to those that are not established have not been fully assessed in prior studies.</p><p><strong>Methods: </strong>We reviewed electronic medical records of patients hospitalized (billing codes 99221-99223, 99217) with diagnoses encompassing AD, eczema, and dermatitis (ICD-10 codes L20.8-L20.9, L30.8-L30.9) between January 1, 2011, and December 31, 2021, at University Hospitals (UH) in Cleveland, Ohio. Patients were considered established with dermatology if they had been seen by a dermatology provider within 6 months prior to admission. Statistical analysis was performed using chi-square goodness of fit.</p><p><strong>Results: </strong>A total of 95 patient encounters met criteria for inclusion. Fifteen (15.8%) patients were established with dermatology at the time of admission and 80 (84.2%) were not. The chi-square value (x<sup>2</sup> = 44.74) was greater than the critical value of 10.828 at one degree of freedom (p < .001). There were 8 patients who had more than one admission for atopic dermatitis flares; 2 of these patients were established with dermatology prior to their first admission, and 4 were established at the time of the second admission.</p><p><strong>Conclusion: </strong>The majority of patients admitted with AD flare were not established with dermatology. Many of these patients lived in a low socioeconomic area and missed follow-up appointments. Increasing access to dermatologic care for patients with atopic dermatitis, especially in lower-income areas, could aid in decreasing atopic dermatitis-related hospitalizations.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141760288","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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