Le Wen Chiu, Basema I Dibas, Patrick D Walker, Aimee C Smidt, Nikifor K Konstantinov
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.
免疫球蛋白 A(IgA)血管炎或过敏性紫癜(Henoch-Schonlein purpura)是儿童最常见的全身性血管炎,临床表现为可触及的紫癜,同时伴有关节炎、胃肠道受累或肾损伤。有报告称,IgA 血管炎患者会出现皮下水肿,通常会影响下肢,尤其是关节周围。在此,我们报告了一例 IgA 血管炎病例,该病例罕见地表现为眶周孤立性水肿,患者为 7 岁男孩,随后发展为新月体肾小球肾炎,并伴有肾病范围蛋白尿。孤立性眶周水肿是 IgA 血管炎不常见的皮肤特征。
{"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
Background: 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.
Objective: 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.
Methods: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases.
Results: 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.
Conclusions: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.
{"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
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.
{"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}
Rodolfo David Palacios-Diaz, Mónica Pozuelo-Ruiz, Francisco Martínez-Castellano, Montserrat Évole-Buselli
Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.
{"title":"Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.","authors":"Rodolfo David Palacios-Diaz, Mónica Pozuelo-Ruiz, Francisco Martínez-Castellano, Montserrat Évole-Buselli","doi":"10.1111/pde.15716","DOIUrl":"https://doi.org/10.1111/pde.15716","url":null,"abstract":"<p><p>Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.</p>","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":"141982959","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}
Gabrielle Schwartzman, Barrett J Zlotoff, Alejandro A Gru, Darren J Guffey
Dermatologic manifestations of cystic fibrosis (CF) include nutrient deficiency dermatoses, vasculitis, transient reactive papulotranslucent acrokeratodema, digital clubbing, and increased rates of atopy and drug reactions. Few cases of a characteristic eruption in patients with episodic arthritis of CF have been described with prior reports primarily occurring outside of the dermatology literature. We report four cases consistent with this presentation to add to the literature and propose a new and unifying name to recognize this entity as cystic fibrosis dermatitis arthritis syndrome (CF-DAS). Clinical suspicion should remain high in young female patients with cystic fibrosis presenting with episodic joint pain and rash, independent of pulmonary exacerbations.
{"title":"Cystic fibrosis dermatitis arthritis syndrome: A series of four cases.","authors":"Gabrielle Schwartzman, Barrett J Zlotoff, Alejandro A Gru, Darren J Guffey","doi":"10.1111/pde.15727","DOIUrl":"https://doi.org/10.1111/pde.15727","url":null,"abstract":"<p><p>Dermatologic manifestations of cystic fibrosis (CF) include nutrient deficiency dermatoses, vasculitis, transient reactive papulotranslucent acrokeratodema, digital clubbing, and increased rates of atopy and drug reactions. Few cases of a characteristic eruption in patients with episodic arthritis of CF have been described with prior reports primarily occurring outside of the dermatology literature. We report four cases consistent with this presentation to add to the literature and propose a new and unifying name to recognize this entity as cystic fibrosis dermatitis arthritis syndrome (CF-DAS). Clinical suspicion should remain high in young female patients with cystic fibrosis presenting with episodic joint pain and rash, independent of pulmonary exacerbations.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907349","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}
Bárbara Vieira Granja, Maria João Cruz, Pedro Rolo De Matos, Ana Paula Cunha, Pedro Amoroso Canão, Teresa Baudrier, Alberto Mota
We report a 12-month-old boy with a skin eruption that developed 15 days after receiving the measles, mumps, rubella (MMR), pneumococcal, and meningococcal vaccines, consistent with the diagnosis of Wells syndrome. Patch testing showed a positive reaction to gelatin, which is used as a stabilizer for both live and inactivated vaccines. Gelatin was only present in the MMR vaccine.
{"title":"Wells syndrome following vaccination: A pediatric case with positive patch test to gelatin.","authors":"Bárbara Vieira Granja, Maria João Cruz, Pedro Rolo De Matos, Ana Paula Cunha, Pedro Amoroso Canão, Teresa Baudrier, Alberto Mota","doi":"10.1111/pde.15719","DOIUrl":"https://doi.org/10.1111/pde.15719","url":null,"abstract":"<p><p>We report a 12-month-old boy with a skin eruption that developed 15 days after receiving the measles, mumps, rubella (MMR), pneumococcal, and meningococcal vaccines, consistent with the diagnosis of Wells syndrome. Patch testing showed a positive reaction to gelatin, which is used as a stabilizer for both live and inactivated vaccines. Gelatin was only present in the MMR vaccine.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141902583","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}