以舌背糜烂为首发表现的先天性角化不良1例

doi:10.13591/j.cnki.kqyx.2025.05.010

口腔医学 ›› 2025, Vol. 45 ›› Issue (5): 376-379.doi: 10.13591/j.cnki.kqyx.2025.05.010

以舌背糜烂为首发表现的先天性角化不良1例

汪素丽, 王文霞()

山东大学齐鲁医学院口腔医学院·口腔医院口腔黏膜病科,山东省口腔组织再生重点实验室,口腔生物材料与组织再生山东省工程研究中心,山东省口腔疾病临床医学研究中心,山东济南(250012)

收稿日期:2024-07-15 出版日期:2025-05-28 发布日期:2025-05-21
通讯作者: 王文霞 E-mail:wangwx@sdu.edu.cn

A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation

WANG Suli, WANG Wenxia()

Department of Oral Mucosal Diseases, School and Hospital of Stomatology, Cheeloo College of Medicine, Shandong University & Shandong Key Laboratory of Oral Tissue Regeneration & Shandong Engineering Research Center of Dental Materials and Oral Tissue Regeneration & Shandong Provincial Clinical Research Center for Oral Diseases, Jinan 250012, China

Received:2024-07-15 Online:2025-05-28 Published:2025-05-21

摘要/Abstract

摘要：

先天性角化不良是由端粒酶相关基因突变所致的一种遗传性短端粒疾病,以口腔黏膜白斑、指甲营养不良和皮肤色素沉着为经典临床表现。本文报告了1例7岁诊断为先天性角化不良,但以舌背糜烂为首发表现的男性患儿,基因检测结果证实DKC1基因突变,并进行文献回顾。

关键词: 先天性角化不良, 端粒酶, 糜烂, DKC1

Abstract:

Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes. The classic clinical manifestations are oral leukoplakia, nail dystrophy, and skin pigmentation. This article reported a 7-year-old male child diagnosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation. Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.

Key words: dyskeratosis congenita, telomerase, erosion, DKC1

中图分类号:

R781.5

汪素丽, 王文霞. 以舌背糜烂为首发表现的先天性角化不良1例[J]. 口腔医学, 2025, 45(5): 376-379.

WANG Suli, WANG Wenxia. A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation[J]. Stomatology, 2025, 45(5): 376-379.

图/表 5

图1

图2

图3

图4

表1

参考文献 27

[1]	Milgrom H, Stoll HL Jr, Crissey JT. Dyskeratosis congenita. a case with new features[J]. Arch Dermatol, 1964, 89: 345-349. pmid: 14096348
[2]	AlSabbagh MM. Dyskeratosis congenita: A literature review[J]. J Ger Soc Dermatol, 2020, 18(9): 943-967.
[3]	麻嘉, 张英, 董丽. 地图舌相关危险因素研究进展[J]. 全科口腔医学电子杂志, 2018, 5(32): 44-45.
[4]	Chen QM, Dan HX, Pan WY, et al. Management of oral leukoplakia: A position paper of the Society of Oral Medicine, Chinese Stomatological Association[J]. Oral Surg Oral Med Oral Pathol Oral Radiol, 2021, 132(1): 32-43.
[5]	刘德富, 蔡扬. 白色海绵状斑痣1例[J]. 口腔医学研究, 2023, 39(8): 757-759. doi: 10.13701/j.cnki.kqyxyj.2023.08.018
[6]	Tummala H, Walne A, Dokal I. The biology and management of dyskeratosis congenita and related disorders of telomeres[J]. Expert Rev Hematol, 2022, 15(8): 685-696.
[7]	Savage SA. Dyskeratosis congenita and telomere biology disorders[J]. Hematology Am Soc Hematol Educ Program, 2022, 2022(1): 637-648. doi: 10.1182/hematology.2022000394 pmid: 36485133
[8]	Yuan CY, Deng DM, Yang JQ, et al. A novel variant and a missense variant identified in the DKC1 gene in three Chinese familieswith dyskeratosis congenita[J]. Clin Cosmet Investig Dermatol, 2022, 15: 1837-1845.
[9]	Mohanty P, Jadhav P, Shanmukhaiah C, et al. A novel DKC1 gene mutation c.1177 A>T (p.I393F) in a case of dyskeratosis congenita with severe telomere shortening[J]. Int J Dermatol, 2019, 58(12): 1468-1471. doi: 10.1111/ijd.14424 pmid: 30868555
[10]	Podlevsky JD, Bley CJ, Omana RV, et al. The telomerase database[J]. Nucleic Acids Res, 2008, 36(database issue): D339-D343.
[11]	Knight SW, Heiss NS, Vulliamy TJ, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene[J]. Am J Hum Genet, 1999, 65(1): 50-58. pmid: 10364516
[12]	乔瑞, 马一平, 陈志明, 等. 先天性角化不良[J]. 临床皮肤科杂志, 2022, 51(8): 459-461.
[13]	Callea M, Martinelli D, Cammarata-Scalisi F, et al. Multisystemic manifestations in rare diseases: The experience of dyskeratosis congenita[J]. Genes, 2022, 13(3): 496.
[14]	Cheng HC, Nanda A, Lin CY, et al. Hoyeraal-Hreidarsson syndrome associated with a new homozygous splice variant in PARN[J]. Clin Exp Dermatol, 2024, 49(10): 1284-1287.
[15]	Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita[J]. Am J Hum Genet, 2013, 92(3): 448-453. doi: 10.1016/j.ajhg.2013.02.001 pmid: 23453664
[16]	高小燕, 刘述川. 端粒缩短与骨髓衰竭性疾病的研究进展[J]. 基础医学与临床, 2021, 41(1): 116-119.
[17]	Alter BP, Baerlocher GM, Savage SA, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita[J]. Blood, 2007, 110(5): 1439-1447. doi: 10.1182/blood-2007-02-075598 pmid: 17468339
[18]	Dokal I, Tummala H, Vulliamy T. Inherited bone marrow failure in the pediatric patient[J]. Blood, 2022, 140(6): 556-570. doi: 10.1182/blood.2020006481 pmid: 35605178
[19]	Tometten M, Kirschner M, Meyer R, et al. Identification of adult patients with classical dyskeratosis congenita or cryptic telomere biology disorder by telomere length screening using age-modified criteria[J]. Hemasphere, 2023, 7(5): e874.
[20]	Dokal I, Vulliamy T, Mason P, et al. Clinical utility gene card for: Dyskeratosis congenita-Supdate 2015[J]. Eur J Hum Genet, 2015, 23(4):558. DOI: 10.1038/ejhg.2014.170.
[21]	王英洁, 陈志伟, 买钰淼, 等. 异基因造血干细胞移植治疗儿童先天性角化不良3例并文献复习[J]. 临床儿科杂志, 2024, 42(3): 243-248.
[22]	Stoopler ET, Shanti RM. Dyskeratosis congenita[J]. Mayo Clin Proc, 2019, 94(9): 1668-1669. doi: S0025-6196(19)30420-3 pmid: 31486376
[23]	Bhoopalan SV, Wlodarski M, Reiss U, et al. Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review[J]. Pediatr Blood Cancer, 2021, 68(10): e29177.
[24]	Carrascoso-Rubio C, Zittersteijn HA, Pintado-Berninches L, et al. Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1[J]. Stem Cell Res Ther, 2021, 12(1): 92. doi: 10.1186/s13287-021-02145-8 pmid: 33514435
[25]	Thompson MB, Muldoon D, de Andrade KC, et al. Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita[J]. E Bio Medicine, 2022, 75: 103760.
[26]	Savage SA, Niewisch MR. Dyskeratosis congenita and related telomere biology disorders[EB/OL].[2024-10-11]. https://www.ncbi.nlm.nih.gov/books/NBK22301.
[27]	Ohsumi A, Nakajima D, Yoshizawa A, et al. Living-donor lung transplantation for dyskeratosis congenita[J]. Ann Thorac Surg, 2021, 112(6): e397-e402.

突变基因	编码产物	遗传方式	主要表型
DKC1	dyskerin	XLR	DC、HH、PF
TERT	TERT	AD AR	DC、AA、PF、LD、MDS、AML HH
TERC	TERC	AD	DC、AA、PF、LD、MDS、AML
NOP10	NOP10	AR	DC
NHP2	NHP2	AR	DC
TINF2	TIN2	AD	DC、HH、RS、PF
WRAP53	TCAB1	AR	DC、HH
CTC1	CTC1	AR	DC、CP
RTEL1	RTEL1	AD AR	PF、AA、LD、DC DC、HH
ACD	TPP1	AD AR	AA HH
PARN	PARN	AD AR	PF DC、HH
STN1	STN1	AR	CP
NAF1	NAF1	AD	PF、LD、MDS
POT1	POT1	AR	CP
ZCCHC8	ZCCHC8	AD	PF
MDM4	MDM4	AD	AA、HNSCC
RPA1	RPA1	AD	DC
DCLRE1B	Apollo	AR	DC、HH

以舌背糜烂为首发表现的先天性角化不良1例

A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation

RichHTML

PDF

可视化

摘要/Abstract

引用本文

使用本文

图/表 5

参考文献 27

相关文章 11

编辑推荐

Metrics

本文评价

[1]	刘华刘菁钟良军梁照忠. Er,Cr:YSGG激光治疗糜烂型口腔扁平苔藓的疗效观察[J]. , 2019, 39(2): 135-137.
[2]	吴悠范媛. 副肿瘤性天疱疮的研究进展[J]. , 2016, 36(7): 645-648.
[3]	杨淑琴蔡剑. 活血化瘀方治疗口腔糜烂型扁平苔藓的临床观察[J]. , 2014, 34(4): 288-288.
[4]	赵玉萍. 西吡氯铵含片辅助治疗糜烂型口腔扁平苔藓临床疗效评价[J]. , 2014, 34(11): 879-880.
[5]	程曼莉,杨亦萍,曹阳,何克新. 端粒酶逆转录酶mRNA在口腔扁平苔藓中的表达[J]. , 2010, 30(11): 655-657.
[6]	赵玉萍. 康复新液治疗糜烂型口腔扁平苔藓的近期疗效观察[J]. , 2009, 29(7): 342-344.
[7]	周青;张桂荣;李瑞武;孙长伏;卢利. 端粒酶RNA反义寡核苷酸对舌癌细胞系Tca8113细胞增殖和端粒酶活性的影响[J]. , 2007, 27(12): 639-642.
[8]	吴国英,朱玲. 口腔黏膜癌前病变癌变过程中端粒酶逆转录酶mRNA和增殖细胞核抗原的表达及其相关性[J]. , 2004, 24(6): 337-340.
[9]	吴国英；朱玲；祁兵. 端粒酶逆转录酶在口腔黏膜癌前病变和鳞癌中的表达[J]. , 2003, 23(3): 137-139.
[10]	张志宏,叶茂昌,李志来,祝怀平,戴海明,吴冰,朱祖武. 端粒酶活性在口腔鳞状细胞癌中的表达研究[J]. , 2002, 22(04): 179-181.
[11]	沈兰英. 氯喹治疗口腔扁平苔藓临床疗效观察[J]. , 2000, 20(2): 97-98.