Pediatric DermatologyPub Date : 2024-09-01Epub Date: 2024-05-22DOI: 10.1111/pde.15652
Cathal O'Connor, Michelle Murphy
{"title":"The burden of treatment of propranolol for infantile hemangiomas: A mixed methods study.","authors":"Cathal O'Connor, Michelle Murphy","doi":"10.1111/pde.15652","DOIUrl":"10.1111/pde.15652","url":null,"abstract":"<p><p>The burden of treatment (BOT) related to propranolol treatment for infantile hemangiomas (IH) has never previously been explored. A modified validated questionnaire, the Treatment Burden Questionnaire, and one-on-one semi-structured interviews were used to assess the BOT for propranolol for IH. Out of 80 caregivers, the overall burden score was very low at 1.2 out of 10; thematic analysis of interviews grouped themes into administration, monitoring, financial, and associated anomalies. The BOT of propranolol for IH is very low but could be reduced further by offering age-based risk stratification related to feeding frequency and risk of hypoglycemia, pragmatic advice around timing of doses before sleep, and reducing frequency of vital sign monitoring.</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":"141076613","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 case of Conradi-Hünermann-Happle syndrome treated with topical simvastatin-cholesterol ointment.","authors":"Jean Zevallos, Stephanie Susano","doi":"10.1111/pde.15739","DOIUrl":"https://doi.org/10.1111/pde.15739","url":null,"abstract":"<p><p>Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018293","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}
Janet A Fairley, Kristen G Berrebi, Andrew M Poggemiller, Afshin Varzavand, Kelly N Messingham
{"title":"Diagnostic challenge: Juvenile bullous pemphigoid with a negative BP180 ELISA.","authors":"Janet A Fairley, Kristen G Berrebi, Andrew M Poggemiller, Afshin Varzavand, Kelly N Messingham","doi":"10.1111/pde.15741","DOIUrl":"https://doi.org/10.1111/pde.15741","url":null,"abstract":"<p><p>Bullous pemphigoid (BP) is an autoimmune blistering disease primarily affecting the elderly, whereas cases of juvenile BP are rare. Both types of BP are typically mediated by autoantibodies targeting the NC16A region of BP180; however, a small subset of adult patient sera react to other regions of the protein. The incidence of a similar occurrence in juvenile BP is unknown. This case of juvenile BP with a negative BP180 ELISA highlights diagnostic pitfalls that can lead to a delay in the correct diagnosis in the pediatric population.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018294","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}
Edan Davidson, Eve Finkelstein, Jonathan Gold, Vered Molho-Pessach
{"title":"A case of congenital pili multigemini.","authors":"Edan Davidson, Eve Finkelstein, Jonathan Gold, Vered Molho-Pessach","doi":"10.1111/pde.15737","DOIUrl":"https://doi.org/10.1111/pde.15737","url":null,"abstract":"<p><p>Pili multigemini is an uncommon hair follicle disorder, where multiple hair shafts emerge from the same follicular opening. While it is commonly observed in men's facial hair, it has also been reported, albeit infrequently, in other areas of the body. Here we describe an unusual case of congenital pili multigemini presenting on the eyebrow of a female infant.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018292","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}
Le Wen Chiu, Basema I Dibas, Patrick D Walker, Aimee C Smidt, Nikifor K Konstantinov
{"title":"Immunoglobulin A vasculitis with periorbital edema and severe renal involvement: A case report.","authors":"Le Wen Chiu, Basema I Dibas, Patrick D Walker, Aimee C Smidt, Nikifor K Konstantinov","doi":"10.1111/pde.15726","DOIUrl":"https://doi.org/10.1111/pde.15726","url":null,"abstract":"<p><p>Immunoglobulin A (IgA) vasculitis, or Henoch-Schonlein purpura, is the most common systemic vasculitis in children, clinically presenting as palpable purpura in combination with arthritis, gastrointestinal involvement, or kidney injury. Subcutaneous edema is reported in patients with IgA vasculitis, and it commonly affects the lower extremities, especially around joints. Here, we report a case of IgA vasculitis with a rare presentation of edema isolated to the periorbital area in a 7-year-old boy, who subsequently developed crescentic glomerulonephritis with nephrotic range proteinuria. Isolated periorbital edema is an uncommon cutaneous feature of IgA vasculitis.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018295","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}
Marta Ivars, Ilona J Frieden, Lauren Provini, Michel Wassef, Lisa Weibel, Martin Theiler, Agustina Lanoel, Victor Martinez-Glez, Lara Rodriguez-Laguna, Carine van der Vleuten, Laurent Guibaud, Katherine Puttgen, Jose Manuel Azaña-Defez, Sarah Chamlin, Beth Drolet, Natalia Torres, Dariusz Wyrzykowsky, Isabel Colmenero, Juan Carlos Lopez-Gutierrez
{"title":"Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature.","authors":"Marta Ivars, Ilona J Frieden, Lauren Provini, Michel Wassef, Lisa Weibel, Martin Theiler, Agustina Lanoel, Victor Martinez-Glez, Lara Rodriguez-Laguna, Carine van der Vleuten, Laurent Guibaud, Katherine Puttgen, Jose Manuel Azaña-Defez, Sarah Chamlin, Beth Drolet, Natalia Torres, Dariusz Wyrzykowsky, Isabel Colmenero, Juan Carlos Lopez-Gutierrez","doi":"10.1111/pde.15724","DOIUrl":"https://doi.org/10.1111/pde.15724","url":null,"abstract":"<p><strong>Background: </strong>Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described.</p><p><strong>Objective: </strong>We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring.</p><p><strong>Methods: </strong>This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases.</p><p><strong>Results: </strong>The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209.</p><p><strong>Conclusions: </strong>We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004973","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 9-month-old female with sudden onset of a non-tender, edematous scaly plaque.","authors":"Cassidy M Nguyen, Courtney N Haller, Moise L Levy","doi":"10.1111/pde.15722","DOIUrl":"https://doi.org/10.1111/pde.15722","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000514","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":"An unusual linear plaque in a child along with nail dystrophy.","authors":"Divya Garg, Anubha Dev, Apoorva Sharma, Debajyoti Chatterjee, Tarun Narang","doi":"10.1111/pde.15732","DOIUrl":"https://doi.org/10.1111/pde.15732","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988579","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}
Chenin Ryan, Angel Moore, Matthew Davis, Caitlin Yazel, Shabnam Momtahen, Angela M Ricci, Elizabeth A Talbot, Julianne Mann, Nicole Pace
{"title":"A rare cutaneous infection with Mycobacterium chelonae in a pediatric patient treated with trametinib for KRAS-mutated diffuse glioma.","authors":"Chenin Ryan, Angel Moore, Matthew Davis, Caitlin Yazel, Shabnam Momtahen, Angela M Ricci, Elizabeth A Talbot, Julianne Mann, Nicole Pace","doi":"10.1111/pde.15718","DOIUrl":"https://doi.org/10.1111/pde.15718","url":null,"abstract":"<p><p>Mitogen-activated extracellular signal-regulated kinase inhibitors (MEKi) represent a promising new therapy for pediatric patients with low-grade gliomas, which frequently have abnormal signaling within the mitogen-activated protein kinase (MAP kinase) pathway. However, understanding of long-term efficacy and toxicity is limited in pediatric glioma patients. This article describes a rare presentation of a widespread cutaneous infection with Mycobacterium chelonae in a pediatric patient with a low-grade glioma treated with trametinib.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988578","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}
Andrea Venegas-Andrade, Isabel Araiza-Atanacio, Gina Del Vecchio-Vanegas, Marimar Sáez-de-Ocariz, Luz Orozco-Covarrubias
{"title":"Bleeding exophytic tumor on the head of a 10-year-old boy.","authors":"Andrea Venegas-Andrade, Isabel Araiza-Atanacio, Gina Del Vecchio-Vanegas, Marimar Sáez-de-Ocariz, Luz Orozco-Covarrubias","doi":"10.1111/pde.15730","DOIUrl":"https://doi.org/10.1111/pde.15730","url":null,"abstract":"","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982958","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}