Lesch-Nyhan综合征引起的唇部严重创伤性溃疡1例

doi:10.13701/j.cnki.kqyxyj.2023.03.018

口腔医学研究 ›› 2023, Vol. 39 ›› Issue (3): 280-281.DOI: 10.13701/j.cnki.kqyxyj.2023.03.018

Lesch-Nyhan综合征引起的唇部严重创伤性溃疡1例

叶赛, 邓一文, 张颖, 沈雪敏, 吴岚^*

上海交通大学医学院附属第九人民医院口腔黏膜病科,上海交通大学口腔医学院,国家口腔医学中心,国家口腔疾病临床医学研究中心,上海市口腔医学重点实验室上海 200011

收稿日期:2022-05-15 出版日期:2023-03-28 发布日期:2023-03-21
通讯作者: * 吴岚,E-mail:teana_wu@sina.com
作者简介:叶赛(1997~ ),女,江苏苏州人,硕士,研究方向:口腔黏膜病学。

Severe Traumatic Ulceration in Lips Caused by Lesch-Nyhan Syndrome: A Case Report

YE Sai, DENG Yiwen, ZHANG Ying, SHEN Xuemin, WU Lan^*

Department of Oral Mucosal Diseases, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology, Shanghai 200011, China

Received:2022-05-15 Online:2023-03-28 Published:2023-03-21

摘要/Abstract

摘要： 自伤性溃疡属于创伤性溃疡的一种类型,好发于性情好动的儿童和青少年。由遗传因素导致的自伤性溃疡非常罕见。本文报告了1例26个月Lesch-Nyhan综合征患儿唇部严重创伤性溃疡的临床表现、诊治过程,以期加深对该疾病的认识。

关键词: 创伤性溃疡, Lesch-Nyhan综合征, 自毁容貌

Abstract: Factitial ulcer is a type of traumatic ulceration that is common in brisk and lively children and adolescents. Factitial ulcer caused by heredity is rare. This paper reports the clinical manifestations and management of severe traumatic ulceration in the lips of a 26-month-old child with Lesch-Nyhan syndrome, in order to deepen the understanding of the disease.

Key words: traumatic ulceration, Lesch-Nyhan Syndrome, self-mutilation

叶赛, 邓一文, 张颖, 沈雪敏, 吴岚. Lesch-Nyhan综合征引起的唇部严重创伤性溃疡1例[J]. 口腔医学研究, 2023, 39(3): 280-281.

YE Sai, DENG Yiwen, ZHANG Ying, SHEN Xuemin, WU Lan. Severe Traumatic Ulceration in Lips Caused by Lesch-Nyhan Syndrome: A Case Report[J]. Journal of Oral Science Research, 2023, 39(3): 280-281.

参考文献

[1] Cakmakli HF, Torres RJ, Menendez A, et al. Macrocytic anemia in Lesch-Nyhan disease and its variants [J]. Genet Med, 2019, 21(2):353-360.
[2] Cho JH, Choi JH, Heo SH, et al. Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants [J]. Metab Brain Dis, 2019, 34(5):1335-1340.
[3] Gilbert C, Sauer M, Cheng J. Reduction of self-mutilating behavior and improved oromotor function in a patient with Lesch-Nyhan syndrome following botulinum toxin injection: A case report [J]. J Pediatr Rehabil Med, 2021, 14(1):133-136.
[4] Ierardo G, Luzzi V, Sfasciotti GL, et al. Lesch-Nyhan syndrome: Evaluation of a modified bite device to prevent bite injuries [J]. Applied Sciences, 2020, 10(11):3808.
[5] Narai T, Harada Y, Fujii N, et al. Combination of Sadenosylmethionine and mouthguard for oral self-mutilation in Lesch-Nyhan syndrome [J]. J Oral Maxillofac Surg Med Pathol, 2021, 33(4):478-481.
[6] Momosaki K, Kido J, Matsumoto S, et al. The effect of S-adenosylmethionine treatment on neurobehavioral phenotypes in lesch-nyhan disease: A case report [J]. Case Rep Neurol, 2019, 11(3):256-264.
[7] 王珺,韩琳,王妍,等.婴儿期发病Lesch-Nyhan综合征4例临床表现及HPRT1基因突变分析并文献复习[J].中国实用儿科杂志,2021,36(7):527-532.
[8] Taira T, Kobayashi T, Hori T. Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report [J]. J Neurosurg, 2003, 98(2):414-416.
[9] Bell S, Kolobova I, Crapper L, et al. Lesch-Nyhan syndrome: Models, theories, and therapies [J]. Mol Syndromol, 2016, 7(6): 302-311.
[10] 岳金涵,王非,辛川,等.自伤性口腔溃疡的病因和临床诊疗特点[J].国际口腔医学杂志,2020,47(5):6.
[11] 江涵,陈谦明,江潞.1例脑瘫幼儿口腔黏膜严重创伤性溃疡的诊治体会[J].口腔医学,2021,41(10):919-922.

Lesch-Nyhan综合征引起的唇部严重创伤性溃疡1例

Severe Traumatic Ulceration in Lips Caused by Lesch-Nyhan Syndrome: A Case Report

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 0

编辑推荐

Metrics