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着色性干皮病:一对兄弟姐妹的病例报告

Xeroderma Pigmentosam: Case Report of Siblings.

作者信息

Javanaiah Nagarathna, Krishnappa Srinath Sarakanuru, Srinivas Hemashree Gottikunte

机构信息

Department of Pediatric and Preventive Dentistry, Government Dental College and Research Institute, Bengaluru, Karnataka, India.

出版信息

Int J Clin Pediatr Dent. 2025 Mar;18(3):311-316. doi: 10.5005/jp-journals-10005-3083. Epub 2025 Apr 19.

Abstract

AIM

This case report reveals how xeroderma pigmentosum (XP) influences the dental procedure and the required modification. It illustrates the circumspect role of pediatric dentists in the soft tissue lesion of the oral cavity.

BACKGROUND

XP is a rare autosomal recessive genodermatosis. Individuals with this condition are unable to repair deoxyribonucleic acid (DNA) damage caused by UV radiation, which can result in a range of photoenergy-induced skin pigmentary changes, malignant tumor development, and occasionally progressive neurologic degeneration. Crippling carcinomas minimize life expectancy. It is an incurable condition with complex therapeutic approaches. Many effective treatments remain in clinical trials; however, sun avoidance and chemotherapeutic agents are commonly followed.

CASE DESCRIPTION

Hereby, we report a case of XP siblings and their dental management.

CONCLUSION

XP, a rare genetic disorder, can go undetected due to a lack of knowledge related to this condition. Pediatric dentists should make an effort to emphasize parental and patient anticipatory education for the maintenance of oral hygiene and also to detect and report any new lesions in the soft tissues of the oral cavity to ensure early preventive and therapeutic approaches at the earliest.

CLINICAL SIGNIFICANCE

This case report emphasizes dental professionals' thorough knowledge of the condition and illustrates measures to be considered during dental treatment. Pediatric dentists should be vigilant in assessing soft tissue manifestations in the oral cavity.

HOW TO CITE THIS ARTICLE

Javanaiah N, Krishnappa SS, Srinivas HG. Xeroderma Pigmentosam: Case Report of Siblings. Int J Clin Pediatr Dent 2025;18(3):311-316.

摘要

目的

本病例报告揭示了着色性干皮病(XP)如何影响牙科治疗程序及所需的调整。它说明了儿童牙医在口腔软组织病变中应谨慎发挥的作用。

背景

XP是一种罕见的常染色体隐性遗传性皮肤病。患有这种疾病的个体无法修复由紫外线辐射引起的脱氧核糖核酸(DNA)损伤,这可能导致一系列光能量诱导的皮肤色素变化、恶性肿瘤发展,偶尔还会出现进行性神经退化。严重的癌症会缩短预期寿命。这是一种无法治愈的疾病,治疗方法复杂。许多有效的治疗方法仍在临床试验中;然而,通常采用避免日晒和使用化疗药物的方法。

病例描述

在此,我们报告一例XP同胞及其牙科治疗情况。

结论

XP是一种罕见的遗传疾病,由于对该疾病缺乏了解,可能未被发现。儿童牙医应努力加强对家长和患者的预期教育,以保持口腔卫生,并检测和报告口腔软组织中的任何新病变,以确保尽早采取预防和治疗措施。

临床意义

本病例报告强调了牙科专业人员对该疾病的全面了解,并说明了在牙科治疗过程中应考虑的措施。儿童牙医在评估口腔软组织表现时应保持警惕。

如何引用本文

Javanaiah N, Krishnappa SS, Srinivas HG. Xeroderma Pigmentosam: Case Report of Siblings. Int J Clin Pediatr Dent 2025;18(3):311 - 316.

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a89d/12096875/235d08f72dee/ijcpd-18-3-311-g001.jpg

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