Senapati Dharitree, Osama Md Ali, Das Suparna, Mendiratta Vibhu, Singh Smita
Department of Dermatology, Lady Hardinge Medical College, New Delhi, 110001 India.
Department of Pathology, Lady Hardinge Medical College, New Delhi, 110001 India.
J Maxillofac Oral Surg. 2024 Aug;23(4):990-993. doi: 10.1007/s12663-024-02269-3. Epub 2024 Jul 9.
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder, affecting nucleotide excision repair against ultraviolet radiation. This genodermatosis (a hereditary skin disorder) is distinguished by photosensitivity, alterations in cutaneous pigmentation, premature aging of the skin, and the typically observed onset of cutaneous and internal malignancies towards the conclusion of the first decade of life. In this article, we present a case involving a 4-year-old girl from North India who was born to non-consanguineous parents and developed an extensive fungating growth on her face. Subsequent diagnosis revealed the presence of squamous cell carcinoma, resulting in significant facial disfigurement. While xeroderma pigmentosum is a recognized condition, its occurrence in India, particularly in the northern region, is relatively rare. This report also underscores a noteworthy observation-the emergence of a cutaneous malignancy at such a tender age.
着色性干皮病是一种罕见的常染色体隐性遗传病，会影响针对紫外线辐射的核苷酸切除修复。这种遗传性皮肤病的特征是光敏性、皮肤色素沉着改变、皮肤过早老化，以及通常在生命的第一个十年结束时出现皮肤和内部恶性肿瘤。在本文中，我们介绍了一个病例，该病例涉及一名来自印度北部的4岁女孩，她的父母非近亲结婚，其面部出现了广泛的溃疡性生长。随后的诊断显示患有鳞状细胞癌，导致面部严重毁容。虽然着色性干皮病是一种已知的病症，但在印度，尤其是北部地区，其发病率相对较低。本报告还强调了一个值得注意的观察结果——在如此年幼的年龄就出现了皮肤恶性肿瘤。
