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着色性干皮病——一例有口腔表现的病例报告

Xeroderma Pigmentosum - A case report with oral implications.

作者信息

Lopes-Cardoso Camila, Paes da Silva Ramos Fernandes Luciana M, Ferreira-Rocha Julierme, Teixeira-Soares Cleverson, Antônio-Barreto Jaison, Humberto-Damante José

机构信息

DDS, MSc, PhD student, Department of Stomatology, Bauru School of Dentistry, University of São Paulo, Bauru, São Paulo, Brazil.

DDS, MSc. Department of Stomatology, Bauru School of Dentistry, University of São Paulo, Bauru, São Paulo, Brazil.

出版信息

J Clin Exp Dent. 2012 Oct 1;4(4):e248-51. doi: 10.4317/jced.50727. eCollection 2012 Oct.

Abstract

Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Important clinical features are: intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous macules, and malignant lesions in sun-exposed areas, including basocellular carcinoma, squamous cell carcinoma, and melanoma. There is a great involvement of many parts of the body, especially head and neck. The oral manifestations are mainly related to the occurrence of malignant tumors in the lips, tongue and buccal mucosa. This paper reports a rare case of Xeroderma Pigmentosum in a 41-year-old male presenting mainly dermatological, neurological and ophthalmological involvement. Oral implications such as severe oral pain and mouth opening limitation were present due to perioral scars. In addition, this paper discuss some important aspects concerning the role of the dental professional management of this entity, since XP patients require constant dental care and follow-up in order to control the occurrence of new lesions on the lips or inside oral cavity. Key words:Actinic cheilitis, oral involvement, Xeroderma pigmentosum.

摘要

着色性干皮病是一种罕见的常染色体隐性遗传病,其特征是DNA修复缺陷,导致临床和细胞对紫外线辐射及致癌剂高度敏感。重要的临床特征包括:强烈的皮肤光敏性、皮肤干燥、皮肤异色症、光化性角化病、在极少阳光照射下出现急性灼痛、红斑、色素沉着性雀斑样斑疹,以及在暴露于阳光的部位出现恶性病变,包括基底细胞癌、鳞状细胞癌和黑色素瘤。身体的许多部位都会受到严重影响,尤其是头颈部。口腔表现主要与嘴唇、舌头和颊黏膜发生恶性肿瘤有关。本文报告了一例41岁男性的罕见着色性干皮病病例,主要表现为皮肤、神经和眼部受累。由于口周瘢痕,出现了严重的口腔疼痛和张口受限等口腔问题。此外,本文还讨论了牙科专业人员对该疾病进行管理的一些重要方面,因为着色性干皮病患者需要持续的牙科护理和随访,以控制嘴唇或口腔内新病变的发生。关键词:光化性唇炎、口腔受累、着色性干皮病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaab/3917633/a13109356a81/jced-4-e248-g001.jpg

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