{"title":"家族性 RTEL1 基因突变儿童先天性角化病的非典型表现","authors":"Faiza Ahmed,Kristina Blegen,Michelle Tarbox","doi":"10.1111/pde.15750","DOIUrl":null,"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":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":null,\"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\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/pde.15750\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pde.15750","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
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。
An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.
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.
期刊介绍:
Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.