<i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case

Q4 Medicine
Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova
{"title":"&lt;i&gt;DSG4&lt;/i&gt; Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case","authors":"Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova","doi":"10.15690/vsp.v22i5.2620","DOIUrl":null,"url":null,"abstract":"Background. Hypotrichosis is a heritable form of alopecia that causes almost complete scalp hair loss in childhood. The diagnosis is typically established according to medical history and clinical picture. Genetic testing is an additional diagnostic method that allows to establish “hypotrichosis” in cases of ambiguous or subtle clinical signs of the disease, as well as to perform differential diagnosis of this condition with others commonly associated with atopic dermatitis (focal and diffuse alopecia). Clinical diagnosis of hypotrichosis in patients with severe dermatosis is challenging. Clinical case description. The girl, aged 2 years 4 months, was hospitalized with complaints on extended rash on the body with severe itching, and changes in hair thickness, quality of hair shaft, and hair loss. Severe atopic dermatitis and hypotrichosis were diagnosed. The diagnosis of atopic dermatitis was established clinically (SCORAD — 65), the diagnosis of hypotrichosis (type 6, monilethrix-like hypotrichosis) was confirmed via molecular genetic testing (nucleotide variant c.699C&gt;T in exone 13 of the DSG4 gene (OMIM # 607892)). Patient's mother, brother, and two sisters were diagnosed with the nucleotide variant chr18:31409487C&gt;T in heterozygous state in the DSG4 gene. Mother and brother had no clinical manifestations, while both sisters had mild scalp hair damage, as well as eyebrows and eyelashes, since birth. There were no clinical manifestations of atopic dermatitis in parents and other children in the family. Conclusion . Hypotrichosis clinical signs can be subtled, smoothed, or imitate the symptoms of other comorbid conditions, especially in patients with comorbidities or severe dermatosis. Also worth noting is that changes in certain genes can aggravate the course of atopic dermatitis. In this clinical case, mutation in the DSG4 gene leads to epidermal barrier failure by disrupting the synthesis of desmosomes transmembrane components. Thus, geneticist consultation and genetic testing (search for changes in certain genes) are crucial in such cases.","PeriodicalId":37561,"journal":{"name":"Voprosy Sovremennoi Pediatrii - Current Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Voprosy Sovremennoi Pediatrii - Current Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/vsp.v22i5.2620","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

Abstract

Background. Hypotrichosis is a heritable form of alopecia that causes almost complete scalp hair loss in childhood. The diagnosis is typically established according to medical history and clinical picture. Genetic testing is an additional diagnostic method that allows to establish “hypotrichosis” in cases of ambiguous or subtle clinical signs of the disease, as well as to perform differential diagnosis of this condition with others commonly associated with atopic dermatitis (focal and diffuse alopecia). Clinical diagnosis of hypotrichosis in patients with severe dermatosis is challenging. Clinical case description. The girl, aged 2 years 4 months, was hospitalized with complaints on extended rash on the body with severe itching, and changes in hair thickness, quality of hair shaft, and hair loss. Severe atopic dermatitis and hypotrichosis were diagnosed. The diagnosis of atopic dermatitis was established clinically (SCORAD — 65), the diagnosis of hypotrichosis (type 6, monilethrix-like hypotrichosis) was confirmed via molecular genetic testing (nucleotide variant c.699C>T in exone 13 of the DSG4 gene (OMIM # 607892)). Patient's mother, brother, and two sisters were diagnosed with the nucleotide variant chr18:31409487C>T in heterozygous state in the DSG4 gene. Mother and brother had no clinical manifestations, while both sisters had mild scalp hair damage, as well as eyebrows and eyelashes, since birth. There were no clinical manifestations of atopic dermatitis in parents and other children in the family. Conclusion . Hypotrichosis clinical signs can be subtled, smoothed, or imitate the symptoms of other comorbid conditions, especially in patients with comorbidities or severe dermatosis. Also worth noting is that changes in certain genes can aggravate the course of atopic dermatitis. In this clinical case, mutation in the DSG4 gene leads to epidermal barrier failure by disrupting the synthesis of desmosomes transmembrane components. Thus, geneticist consultation and genetic testing (search for changes in certain genes) are crucial in such cases.
& lt; i> DSG4< / i>基因变异是导致严重特应性皮炎儿童毛少症的原因:临床病例
背景。毛少症是一种遗传性的脱发形式,在儿童时期导致几乎完全的头皮脱发。诊断通常是根据病史和临床表现确定的。基因检测是一种附加的诊断方法,可以在该病临床症状不明确或不明显的情况下确定“毛少症”,并将这种疾病与其他通常与特应性皮炎(局灶性和弥漫性脱发)相关的疾病进行鉴别诊断。严重皮肤病患者毛少症的临床诊断具有挑战性。临床病例描述。该女童年龄2岁4个月,因身体长疹伴严重瘙痒、毛发粗细、毛干质量改变及脱发而住院。诊断为严重的特应性皮炎和少毛症。临床确诊为特应性皮炎(SCORAD - 65),通过分子基因检测(DSG4基因(OMIM # 607892)外显子13核苷酸变异c.699C>T)确诊为毛少症(6型,单毛样毛少症)。患者的母亲、兄弟和两个姐妹被诊断为DSG4基因杂合状态的核苷酸变异chr18:31409487C>T。母亲和弟弟均无临床表现,而两姐妹自出生以来均有轻微的头皮头发损伤,以及眉毛和睫毛。父母及家庭其他儿童均无特应性皮炎的临床表现。结论。毛少症的临床症状可以被淡化、缓和或模仿其他合并症的症状,特别是在有合并症或严重皮肤病的患者中。同样值得注意的是,某些基因的改变会加重特应性皮炎的病程。在这个临床病例中,DSG4基因的突变通过破坏桥粒跨膜成分的合成导致表皮屏障失效。因此,在这种情况下,遗传学家咨询和基因检测(寻找某些基因的变化)至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Voprosy Sovremennoi Pediatrii - Current Pediatrics
Voprosy Sovremennoi Pediatrii - Current Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.70
自引率
0.00%
发文量
48
审稿时长
8 weeks
期刊介绍: The main purpose of the academic journal "Current Pediatrics" is to cover the issues related to health, emotional state, and social adaptation of children. In the journal we publish the most pressing issues of research and applied problems (such as social paediatrics; clinical findings, anamnesis, and diagnosis of paediatric diseases; prevention and rehabilitation; supply of healthy and sick child), reviews on the current state of medical science and management of health care in Russia. Along with the concern for providing a high level of basic research publications, the journal, being a mass media tool, tends to meet the interests and requirements of practitioners from different regions and bring up vital and urgent questions. To accomplish this purpose the journal includes the materials of practical interest presented in the following sections: "Exchange of experience", "Doctor''s aid", "Continuous professional education", "Expert Opinion". The journal presents actual official information from the Union of Paediatricians of Russia and publishes materials on the history of medical science, congresses, seminars, conferences, both in our country and abroad.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信