Xeroderma Pigmentosum (XP) is a rare, inherited autosomal recessive genetic disorder that affects both males and females equally [1]. It is classified into eight types based on the mutated gene involved: XPA, XPC, DDB2, , ERCC2, ERCC3, ERCC4, ERCC5, and POLH [2]. These genes, except POLH, are crucial for repairing DNA damage induced by ultraviolet (UV) radiation through a process known as nucleotide excision repair (NER) [3], [4], whilePOLH is required for lession bypass on UV-induced DNA damage during replication [1]. Although XP patients can be categorized into the above-mentioned complementation groups, the XP-C group (OMIM: 278720), caused by pathogenic variants in the XPC gene, is the most prevalent, accounting for approximately 43 % of XP cases [5]. The clinical consequences of XPC mutations include skin lesions characterized by pigment changes and an elevated risk of sunlight-induced cutaneous neoplasms [6]. The XPC expression is predominantly observed in the skin, particularly in squamous epithelial cells (keratinocytes) and fibroblasts [7], [8]. This distribution likely underlies the clinical manifestations seen in patients harboring XPC variants.

While XP has been identified worldwide, it exhibits significant clinical variability and genetic heterogeneity [9]. This complexity implies that establishing a relationship between clinical manifestations and mutational sites in the XPC gene may be challenging. Although XP is a severe and life-threatening condition, its prognosis is significantly influenced by several factors. These include the level of general knowledge and awareness about the disease, which can impact early diagnosis and intervention. Education and support for patients and their families play a crucial role in managing the condition effectively. Additionally, access to photoprotection measures, such as sunscreen, protective clothing, and shade, along with adequate healthcare facilities, can greatly improve the quality of life for individuals with XP [9]. Herein, we report a case of XP characterized by a novel pathogenic mutation in the XPC gene, specifically at the c.2420 + 1 G>C position. This mutation is predicted to result in the loss of function of the XPC protein, which plays a crucial role in the NER pathway, thereby exacerbating the DNA damage caused by UV radiation.