Main Methods:

• Review of existing literature on Xeroderma pigmentosum, focusing on genetic defects, clinical presentation, diagnostic methods, and treatment options.
• Discussion of traditional diagnostic techniques like unscheduled DNA synthesis (UDS) and cell survival assays, and their transition to modern molecular genetic testing.
• Analysis of current therapeutic strategies, including photoprotection, topical treatments (imiquimod, PDT), and surgical interventions (surgery, cryosurgery, chemotherapy).

Main Results:

• XP is associated with a significantly elevated risk of skin cancers, including basal cell carcinoma, squamous cell carcinoma, and melanoma, often developing in childhood.
• Molecular genetic testing has become the preferred method for diagnosing XP, enabling identification of specific mutations and facilitating carrier and prenatal diagnosis.
• Newer therapies like imiquimod and photodynamic therapy (PDT) offer effective tumor destruction with minimal damage to surrounding healthy skin.

Conclusions:

• Effective management of XP hinges on rigorous photoprotection, regular dermatological surveillance, and timely treatment of malignancies.
• Multidisciplinary care in specialized centers, alongside patient support groups, is essential for optimizing treatment quality and slowing disease progression.
• Continued research into the genetic and molecular underpinnings of XP promises further advancements in diagnosis and therapy.