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.
先天性角化不良症（DC）是一种罕见的遗传性骨髓疾病，通常表现为口腔白斑、指甲营养不良和网状色素沉着三联征。它最常见的病因是参与端粒稳定性的 DKC1 基因缺陷。口腔白斑恶性发展为鳞状细胞癌（SCC）的病例在 DC 中非常罕见，尤其是在年轻患者中，皮肤 SCC 仅占 DC 病例的 1.5%。在此，我们报告了一例 12 岁女性的家族性杂合子 RTEL1（端粒伸长调节器螺旋酶 1）基因突变病例，该病例伴有以多发性皮肤 SCC 为特征的严重 DC 表型。
{"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":"19 1","pages":""},"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}
Frank Z. Jing, Beija K. Villalpando, Megha M. Tollefson
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).
背景婴儿血管瘤（IHs）是婴儿期最常见的血管肿瘤，一般认为其出生时并不存在，而是在出生后最初几周的增殖期出现。虽然IHs的典型表现是可以识别的，但其前驱病变可能会被误解为其他实体，包括血管畸形。研究方法开展了一项回顾性单中心研究，对出生后第1天（DOL）拍摄到IH前驱病变的新生儿和成熟的典型IHs进行了检查。该研究的时间跨度为 2017 年至 2023 年。结果该病例系列由 9 例新生儿组成，均在出生后第 1 天出现前驱病变，并对前驱病变和典型 IH 的照片进行了对比展示。每个病例的进一步表格信息包括 IH 位置、后续治疗方式以及必要的进一步诊断工作。结论提高对前驱病变的识别能力可提高诊断的准确性，减少不必要的检查，从而使皮肤科医生能够自信地采取密切的后续管理策略。此外，在广泛受累的病例中，识别前驱病变可加快对 PHACE（后窝畸形、血管瘤、动脉异常、主动脉瓣狭窄）等综合征的检查、和 LUMBAR（下半身 IH、泌尿系统异常、溃疡、脊髓病变、骨骼畸形、肛门直肠畸形、动脉异常和肾脏异常）。
{"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":"9 1","pages":""},"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}
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.
{"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":"39 1","pages":""},"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}
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 > 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.
{"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 > 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":"59 1","pages":""},"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}
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent infections with Candida 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 AIRE 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.
{"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":"80 1","pages":""},"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}
Anabell Andrea Lima‐Galindo, Leslie Monserrat Garza‐García, Valeria Olvera‐Rodríguez, Miguel Bonifacio Favela‐Galvez, Jorge Ocampo‐Candiani, Erika Alba‐Rojas
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.
{"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":"50 1","pages":""},"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}
Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund
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 PORCN.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 PORCN 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 PORCN 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.
{"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":"75 1","pages":""},"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}
Meryem T. Ok, Paul B. Googe, Christopher J. Sayed, Craig Burkhart, Ajay S. Gulati, Elizabeth L. Nieman
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.
{"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":"5 1","pages":""},"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}
José González Rodríguez, Eduardo de‐la‐Rosa Fernández, Irene Loizate Sarrionandia, Elsa Benítez García, Maria Herrero Moyano, Héctor Juan Morales Moreno, José Suárez Hernández
5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as MEF2C and RASA1 and is potentially classified as a neurocutaneous syndrome. Deletion of the MEF2C gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders. RASA1 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 MEF2C and RASA1, exhibiting the typical manifestations of this entity, and review the published cases to date.
{"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":"4 1","pages":""},"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}
Ivan Rodriguez, Andrew T. Kwong, Minnelly Luu, Scott D. Worswick
Reactive infectious mucocutaneous eruption (RIME) is a newly defined condition characterized by mucocutaneous blistering secondary to upper respiratory infections and encompasses Mycoplasma pneumoniae‐induced rash and mucositis, broadening the disease spectrum to include various infectious etiologies. We present a severe RIME case involving a 5‐year‐old female with concurrent coronavirus NL63 and group A streptococcus infections. Diagnosis complexity stemmed from overlapping clinical features with other severe mucocutaneous eruptions such as Stevens‐Johnson syndrome/toxic epidermal necrolysis/drug‐induced necrolysis. This case underscores the need for comprehensive infectious workup and emphasizes the clinical diagnostic spectrum of drug‐induced and infection‐induced desquamative skin and mucosal disease.
反应性传染性粘膜糜烂（RIME）是一种新定义的疾病，其特征是继发于上呼吸道感染的粘膜水疱，包括肺炎支原体诱发的皮疹和粘膜炎，将疾病谱扩大到包括各种感染病因。我们介绍了一例严重的 RIME 病例，患者是一名 5 岁女性，同时患有冠状病毒 NL63 和 A 组链球菌感染。诊断的复杂性源于与其他严重粘膜糜烂（如史蒂文斯-约翰逊综合征/毒性表皮坏死溶解症/药物性坏死溶解症）重叠的临床特征。本病例强调了进行全面感染检查的必要性，并强调了药物和感染引起的脱屑性皮肤和粘膜疾病的临床诊断范围。
{"title":"A severe case of reactive infectious mucocutaneous eruption associated with two possible triggers: Coronavirus and group A streptococcus","authors":"Ivan Rodriguez, Andrew T. Kwong, Minnelly Luu, Scott D. Worswick","doi":"10.1111/pde.15744","DOIUrl":"https://doi.org/10.1111/pde.15744","url":null,"abstract":"Reactive infectious mucocutaneous eruption (RIME) is a newly defined condition characterized by mucocutaneous blistering secondary to upper respiratory infections and encompasses <jats:italic>Mycoplasma pneumoniae</jats:italic>‐induced rash and mucositis, broadening the disease spectrum to include various infectious etiologies. We present a severe RIME case involving a 5‐year‐old female with concurrent coronavirus NL63 and group A streptococcus infections. Diagnosis complexity stemmed from overlapping clinical features with other severe mucocutaneous eruptions such as Stevens‐Johnson syndrome/toxic epidermal necrolysis/drug‐induced necrolysis. This case underscores the need for comprehensive infectious workup and emphasizes the clinical diagnostic spectrum of drug‐induced and infection‐induced desquamative skin and mucosal disease.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":"59 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191677","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}
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