Akademik Veri Yönetim Sistemi
Turkderm Turkish Archives of Dermatology and Venereology, cilt.59, sa.2, ss.63-65, 2025 (ESCI)
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis caused by mutations in the DNA repair system, leading to impaired repair of ultraviolet (UV) radiation-induced damage. XP is classified into seven nucleotide excision repair-deficient types (XPA to XPG) and a variant type (XPV). Diagnosis can be made at a later age in the XPV subtype, where sunburn reactions are known to be less severe. In this case, a 33-year-old male patient with a history of freckling that began at age 10 and basal cell carcinoma and squamous cell carcinoma in the head and neck region over the past 5 years presented with a suspicious non-pigmented 6 mm nodular lesion in the left subauricular region. Pathological examination revealed a diagnosis of malignant melanoma (MM). Concurrent genetic analysis revealed a homozygous c.491-6T>G mutation in the POLH gene, confirming a diagnosis of XPV. The mild clinical features of XP in our patient made the XPV diagnosis challenging, and the atypical dermoscopic features of the lesion complicated the clinical diagnosis of MM. It is reported that the age of onset of malignant skin tumors in XPV patients is later than in other groups, and the frequency of MM is higher. This case highlights the frequent delay in diagnosis and the diagnostic challenges of skin tumors in XPV patients.