Xeroderma Pigmentosum with Simultaneous Cutaneous and Ocular Squamous Cell Carcinoma

被引:4
作者
Effendi, Raden Mohamad Rendy Ariezal [1 ]
Fadhlih, Azmi [1 ]
Diana, Inne Arline [1 ]
Gondokaryono, Srie Prihianti [1 ]
Dwiyana, Reiva Farah [1 ]
机构
[1] Univ Padjadjaran Dr Hasan Sadikin Hosp, Fac Med, Dept Dermatol & Venereol, Bandung, Indonesia
关键词
dermoscopy; ocular carcinoma; squamous cell carcinoma; xeroderma pigmentosum;
D O I
10.2147/CCID.S348771
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that disrupts deoxyribonucleic acid (DNA) repair due to ultraviolet (UV) radiation. XP is characterized by extreme sensitivity to sunlight, photophobia, cutaneous lesions in the form of freckle-like hyperpigmented macules, and neoplasia on the skin surface. Malignancy is a common complication found in areas exposed to UV light. Squamous cell carcinomas (SCC) is the most common malignancy seen inpatients with XP. This report illustrates a case of XP in a six-yearold girl with cutaneous and ocular SCC. The diagnosis of XP was established based on the patient's history and the presence of typical clinical manifestations. Dermoscopy and histopathology examinations confirmed the presence of SCC on the face and eyes. The management of XP patients includes early diagnosis, lifelong UV protection, and early detection of cutaneous malignancy. Early detection and appropriate management are very important in preventing the occurrence of malignancy.
引用
收藏
页码:157 / 161
页数:5
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