Pediatric Dermatology最新文献

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Short Anagen Hair Syndrome and Its Association With WNT10A Gene Variants: A Report of Three Pediatric Cases. 短毛生长综合征及其与WNT10A基因变异的关系:三例儿科病例报告
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-29 DOI: 10.1111/pde.15976
Nelly Marlene Román Mendoza, Magdalini Louka, Sergio García-González, Nelmar-Valentina Ortiz-Cabrera, Barbara Fernández Garoz, Lucero Noguera-Morel, Ángela Hernández-Martín
{"title":"Short Anagen Hair Syndrome and Its Association With WNT10A Gene Variants: A Report of Three Pediatric Cases.","authors":"Nelly Marlene Román Mendoza, Magdalini Louka, Sergio García-González, Nelmar-Valentina Ortiz-Cabrera, Barbara Fernández Garoz, Lucero Noguera-Morel, Ángela Hernández-Martín","doi":"10.1111/pde.15976","DOIUrl":"https://doi.org/10.1111/pde.15976","url":null,"abstract":"<p><p>Short anagen hair syndrome (SAHS) is a rare hair disorder characterized by a shortened anagen phase, limiting hair growth to a few centimeters. SAHS is a benign condition often improving after puberty, with diagnosis supported by clinical, trichological, and genetic findings. We report three pediatric cases of persistently short hair, all with negative hair pull tests and trichogram findings revealing club-shaped roots, tapering, and hair shaft diameter variability. Genetic testing identified the c.682 T>A;p.(Phe228Ile) variant in heterozygosity in the WNT10A gene in two patients, a variant reported as a risk factor for the condition.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174105","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
Direct Immunofluorescence (DIF) Microscopy of Skin Biopsies From Children: A Retrospective Cohort Study of 986 DIF Studies. 儿童皮肤活检的直接免疫荧光(DIF)显微镜:986项DIF研究的回顾性队列研究
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-29 DOI: 10.1111/pde.15978
Clint Christian T Garbanzos, Jorge A Rios-Duarte, Heather D Hardway, Austin Todd, Dawn M R Davis, Julia S Lehman
{"title":"Direct Immunofluorescence (DIF) Microscopy of Skin Biopsies From Children: A Retrospective Cohort Study of 986 DIF Studies.","authors":"Clint Christian T Garbanzos, Jorge A Rios-Duarte, Heather D Hardway, Austin Todd, Dawn M R Davis, Julia S Lehman","doi":"10.1111/pde.15978","DOIUrl":"https://doi.org/10.1111/pde.15978","url":null,"abstract":"<p><strong>Background/objectives: </strong>Immune-mediated skin disorders, such as immunobullous dermatoses and leukocytoclastic vasculitis, rarely affect children. While direct immunofluorescence (DIF) biopsy is a standard diagnostic tool, limited data exist on pediatric DIF patterns, rates of positivity, pretest diagnostic concordance, and the relevance of biopsy site. This study sought to address these gaps.</p><p><strong>Methods: </strong>DIF data from all skin and mucosal specimens interpreted at Mayo Clinic's reference immunodermatology laboratory for patients aged 0-18 years (August 22, 2017 to November 30, 2023) were reviewed. DIF results were classified as positive if a characteristic pattern was seen and negative if the findings were negative or nondiagnostic.</p><p><strong>Results: </strong>Of 986 pediatric DIF studies, 153 (15.5%) were positive and comparable to adult positivity rates (20.9%) during the same period. The most frequent DIF patterns were IgA-predominant vasculitis (N = 85/153; 55.5%) and lichenoid tissue reaction (N = 21/153;13.7%). Concordance between pretest diagnosis and positive DIF results was highest for linear IgA bullous dermatosis (N = 7/7; 100%) and dermatitis herpetiformis (N = 6/6; 100%). Excluding these entities, DIF changed the pretest diagnosis in 16.7% (N = 19/114) of cases. While lower extremity biopsies were initially more likely to yield positive DIF results, this association disappeared when IgA vasculitis cases were excluded.</p><p><strong>Conclusion: </strong>The most frequent DIF pattern in children was that of IgA-predominant vasculitis. Pediatric DIF positivity rates closely mirrored those of adults, supporting similar biopsy thresholds. DIF results differed from the pretest impression in a substantial percentage, supporting the value of DIF in select situations in the pediatric population. After controlling for IgA vasculitis, biopsy site was not associated with DIF positivity.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173918","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
Adding to Your Tool Box: Laser Therapy for Vascular Anomalies. 增加到你的工具箱:激光治疗血管异常。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-29 DOI: 10.1111/pde.15991
Kevin V Thomas, Todd Le, Feben Messele, Catharine B Garland, Eric J Monroe, Denise Metry, Yakir Levin, Kristen M Kelly, Lisa M Arkin
{"title":"Adding to Your Tool Box: Laser Therapy for Vascular Anomalies.","authors":"Kevin V Thomas, Todd Le, Feben Messele, Catharine B Garland, Eric J Monroe, Denise Metry, Yakir Levin, Kristen M Kelly, Lisa M Arkin","doi":"10.1111/pde.15991","DOIUrl":"https://doi.org/10.1111/pde.15991","url":null,"abstract":"<p><p>Adjuvant laser therapy of vascular anomalies is based on the principle of selective photo-thermolysis, through targeted destruction of selected chromophores with minimal injury to surrounding tissue. Choice of laser wavelength, treatment parameters, and predicted response to therapy are dependent on the dominant chromophore within the vascular anomaly, lesional location, and target depth, with relatively superficial and mucosal lesions producing the best response to therapy. Lasers can be safely combined with multi-modal approaches for vascular anomalies, including sclerotherapy, surgical excision, and systemic therapy. In this manuscript, we review the laser literature on a range of vascular anomalies, and provide indications, appropriate therapeutic and warning endpoints in the skin, pearls/pitfalls, and multi-disciplinary approaches for pediatric dermatologists pursuing laser as adjuvant therapy for vascular anomalies.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182444","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
Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review. 念珠阵的临床特点和目前的治疗方法:系统回顾。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-29 DOI: 10.1111/pde.15986
Adam C Yu, Dana Koroluk, Fatmah Alzahrani
{"title":"Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review.","authors":"Adam C Yu, Dana Koroluk, Fatmah Alzahrani","doi":"10.1111/pde.15986","DOIUrl":"https://doi.org/10.1111/pde.15986","url":null,"abstract":"<p><p>Monilethrix is a rare congenital hair disorder characterized by fragile, beaded hair shafts due to mutations in various keratin or desmoglein 4 genes. A systematic review of 24 studies (16 pediatric only, 3 mixed adult and pediatric, 3 adult only, and 2 unspecified) evaluating various treatment modalities identified topical and oral minoxidil as the most effective therapies, while oral retinoids and other treatments showed variable efficacy. Further pediatric research and clinical studies are necessary to assess long-term treatment outcomes and explore novel therapeutic strategies for this challenging condition.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173148","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
Progressive Soft Tissue Swelling in a Pediatric Patient Leading to the Diagnosis of Fibrodysplasia Ossificans Progressiva: A Case Report. 儿童患者进行性软组织肿胀导致进行性骨化性纤维发育不良的诊断:1例报告。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15962
Orhan Yilmaz, Loretta Fiorillo
{"title":"Progressive Soft Tissue Swelling in a Pediatric Patient Leading to the Diagnosis of Fibrodysplasia Ossificans Progressiva: A Case Report.","authors":"Orhan Yilmaz, Loretta Fiorillo","doi":"10.1111/pde.15962","DOIUrl":"https://doi.org/10.1111/pde.15962","url":null,"abstract":"<p><p>Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive heterotopic ossification (HO) and congenital malformation of the great toes. This case describes a 5-year-old Caucasian girl who initially presented with painless neck and back swelling as well as severe limitation of movement in the neck and shoulder girdle, who was diagnosed as FOP following tissue-based genetic testing revealing the ACVR1 (p.Arg206His) pathogenic variant. The diagnostic process, which included imaging, skin biopsy, and a thorough infectious and autoimmune workup, emphasized the challenges in identifying FOP due to its rarity; however, bilateral congenital hallux valgus, often present in FOP, can be a clue for early diagnosis. While corticosteroids provide temporary relief, long-term management now includes palovarotene, a novel therapy to suppress HO.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174008","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
Doxycycline Prophylaxis in Adolescent Patients Treated With MEK Inhibitors. MEK抑制剂治疗的青少年多西环素预防。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15996
Faith Cormier, Irene Lara-Corrales, Rebecca Levy
{"title":"Doxycycline Prophylaxis in Adolescent Patients Treated With MEK Inhibitors.","authors":"Faith Cormier, Irene Lara-Corrales, Rebecca Levy","doi":"10.1111/pde.15996","DOIUrl":"https://doi.org/10.1111/pde.15996","url":null,"abstract":"<p><p>Mitogen-activated protein kinase inhibitors (MEKi) are used to treat various conditions, including plexiform neurofibromas, brain tumors, and cancers. Our study aimed to determine whether doxycycline prophylaxis could reduce the frequency and/or severity of acneiform eruptions and paronychia, common side effects of MEKi. Our retrospective study included data from 43 patients aged 12 to 18 years, who received MEKi treatment at the Hospital for Sick Children, Toronto, Canada, between 2010 and 2023. We found that while doxycycline prophylaxis did not significantly impact the frequency or severity of acneiform eruptions (based on CTCAE grading), it appeared to be associated with fewer MEKi discontinuations due to skin toxicities and decreased rates of paronychia.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174005","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
Comparative Evaluation of ChatGPT and ChatGLM Performance in Response to Common Queries on Pediatric Atopic Dermatitis. ChatGPT与ChatGLM对儿童特应性皮炎常见问题的比较评价
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15988
Zhipeng Lin, Songyi Piao, Aoxue Wang
{"title":"Comparative Evaluation of ChatGPT and ChatGLM Performance in Response to Common Queries on Pediatric Atopic Dermatitis.","authors":"Zhipeng Lin, Songyi Piao, Aoxue Wang","doi":"10.1111/pde.15988","DOIUrl":"https://doi.org/10.1111/pde.15988","url":null,"abstract":"<p><strong>Background: </strong>Atopic dermatitis (AD) is a prevalent chronic and recurrent skin condition in children. Developing novel and standardized management strategies to control AD is urgently needed. Artificial intelligence technology-based large language models (LLMs), especially Chat Generative Pre-trained Transformer (ChatGPT) and Chat General Language Modeling (ChatGLM), show potential in generating appropriate responses to dialogue.</p><p><strong>Methods: </strong>This study aims to assess the performance of ChatGPT-4 omni (ChatGPT-4o) and ChatGLM-4 in answering common queries about pediatric AD in a medical context. By screening popular inquiries from the AtopicDermatitis.net forum, we identified 102 key questions from parents of children with AD. Then, each question was input into both ChatGPT-4o and ChatGLM-4 to generate responses. Five senior dermatologists independently scored the reliability and clinical applicability of the responses. Finally, we compared the score distributions and performed a consistency analysis.</p><p><strong>Results: </strong>For both reliability and clinical applicability, ChatGPT-4o scored slightly better overall, ranging from 92.98% to 95.97% of the total maximum score, compared to ChatGLM-4, which ranged from 82.59% to 96.83%. However, there was no significant difference between them (p > 0.05). The consistency test indicated significant concordance among dermatologists (p < 0.05), with Kendall's coefficient of concordance above 0.40 in subgroups such as skin care, special manifestations, and treatment, demonstrating moderate consistency. They provide equivalent reliability and clinical applicability in answering queries about pediatric AD.</p><p><strong>Conclusions: </strong>The quality of the two LLMs' responses matches that of dermatology professors, which demonstrates that LLMs can effectively recommend treatments, care, and management strategies for pediatric AD.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161011","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
Inflamed or Infected Molluscum Contagiosum Lesions: Pediatrician Perceptions and the Risk of Antibiotic Overuse. 发炎或感染的传染性软疣病变:儿科医生的看法和抗生素过度使用的风险。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15998
Trevor Young, Jenny Wei, Joy Wan, Albert C Yan
{"title":"Inflamed or Infected Molluscum Contagiosum Lesions: Pediatrician Perceptions and the Risk of Antibiotic Overuse.","authors":"Trevor Young, Jenny Wei, Joy Wan, Albert C Yan","doi":"10.1111/pde.15998","DOIUrl":"https://doi.org/10.1111/pde.15998","url":null,"abstract":"<p><strong>Background/objectives: </strong>Molluscum contagiosum (MC) is a common pediatric skin infection caused by the molluscum contagiosum virus. Lesions often become inflamed prior to self-resolving. This phenomenon can mimic bacterial superinfection, although true superinfection of MC lesions is thought to be rare.</p><p><strong>Methods: </strong>We conducted a single-center retrospective study of MC patients 0-18 years of age who were diagnosed with MC and had a bacterial culture of one or more inflamed molluscum lesions over a 10-year period. Data collected included the prevalence of true infection on culture, specific pathogens that were implicated, and the prevalence of antibiotic usage. We also surveyed general pediatricians to better understand their beliefs and practices regarding MC superinfection.</p><p><strong>Results: </strong>Fifty-one patients who were diagnosed with MC and underwent a bacterial culture were included. Most patients were diagnosed and treated by their pediatrician. Of 57 cultures collected from the 51 included patients, 7 (12%) isolated a pathogenic bacterial organism. Thirty-six (71%) patients were prescribed at least one topical antibiotic, and 32 (63%) patients were prescribed at least one systemic antibiotic to treat their MC or MC-related superinfection. Among the 217 pediatricians surveyed, 118 complete responses were received (54% response rate), with 47% of respondents reporting never culturing MC lesions suspected of being superinfected.</p><p><strong>Conclusions: </strong>Our study reaffirms a low prevalence of MC superinfection, as evidenced by the low rate of culture positivity. However, antibiotics were routinely prescribed despite negative cultures. These findings suggest that using bacterial cultures for MC lesions suspected of being superinfected, and-when clinically appropriate-waiting briefly for preliminary results before treating with antibiotics could dramatically reduce unnecessary antibiotic use.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161030","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
Exploring Treatment Adherence in Children Aged 0-6 With Atopic Dermatitis: A Pilot Cross-Sectional Study in China. 探索0-6岁特应性皮炎儿童的治疗依从性:中国的一项试点横断面研究。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15968
Zizhuo Li, Xinming Mai, Yan Liao, Heng Yang, Chener Yang, Jiaying Chen, Lu Wei, Xia Dou, Chengxin Li
{"title":"Exploring Treatment Adherence in Children Aged 0-6 With Atopic Dermatitis: A Pilot Cross-Sectional Study in China.","authors":"Zizhuo Li, Xinming Mai, Yan Liao, Heng Yang, Chener Yang, Jiaying Chen, Lu Wei, Xia Dou, Chengxin Li","doi":"10.1111/pde.15968","DOIUrl":"https://doi.org/10.1111/pde.15968","url":null,"abstract":"<p><strong>Background/objectives: </strong>Atopic dermatitis (AD) is a common chronic inflammatory skin disease in pediatric populations, yet treatment adherence remains a persistent challenge. This study aims to assess caregivers' perceptions of treatment and investigate the factors influencing treatment adherence in children with AD in China.</p><p><strong>Methods: </strong>A cross-sectional study was conducted at the Department of Dermatology, Peking University Shenzhen Hospital, between April and December 2023. Demographic and disease information were collected. Caregivers were assessed using the Topical Corticosteroid Phobia (TOPICOP) questionnaire, the Treatment Satisfaction Questionnaire for Medication-9 (TSQM-9), and the 8-item Morisky Medication Adherence Scale (MMAS-8).</p><p><strong>Results: </strong>A total of 100 children were enrolled, most with mild-to-moderate disease severity. 88% of patients reported using topical corticosteroids. The median caregiver global TOPICOP score was 55.6% (IQR 41.7%-67.4%) with a standard deviation (SD) of 17.2%. The mean MMAS score was 4.48 (SD 1.42), and the median was 4.75 (IQR 3.50-6.00). Overall, adherence was generally low, with 72% of caregivers demonstrating low adherence, 23% demonstrating medium adherence, and 4% demonstrating high adherence. Caregivers of male children and male caregivers showed significantly higher adherence. Lower caregiver ratings of treatment convenience were associated with poorer adherence, whereas caregiver education level and corticophobia were not associated with adherence.</p><p><strong>Conclusions: </strong>The current treatment approach for children with eczema in China was generally poor, and treatment convenience was an important factor influencing caregiver adherence.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161026","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
Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF. 一个被诊断为由HRURF新变异引起的Marie Unna遗传性毛少症1的家庭的临床表现。
IF 1.2 4区 医学
Pediatric Dermatology Pub Date : 2025-05-28 DOI: 10.1111/pde.15982
Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt
{"title":"Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF.","authors":"Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt","doi":"10.1111/pde.15982","DOIUrl":"https://doi.org/10.1111/pde.15982","url":null,"abstract":"<p><p>Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty. This case report describes the clinical presentation of three Danish family members with congenital hypotrichosis with a new phenotypic variation marked by progressive scalp hair growth during adulthood in one of the members. A novel likely pathogenic variant c.105G>T (p.(*35Tyrext*?)) in HRURF, formerly known as U2HR, causing MUHH1 was identified. The findings contribute to the knowledge on pathogenic and phenotypic variation in MUHH1.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161007","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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