Diagnosis and Management of Xeroderma Pigmentosum.
DOI:
https://doi.org/10.36557/2674-8169.2025v7n10p875-888Keywords:
Xeroderma pigmentosum, diagnosis, treatment, neoplasm, genetic disorder.Abstract
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder that causes extreme photosensitivity and a high risk of skin cancer. Neurological and ocular implications are also common. This study examines the current tools for its diagnosis and management, as well as emerging therapies. The aim is to evaluate these strategies to improve the quality of life for patients. The methodology involved a review of recent literature, selecting relevant studies since 2015, with a focus on robust data regarding clinical manifestations and treatments. The results highlight the importance of early diagnosis through genetic sequencing and management strategies ranging from rigorous sun protection to surgical interventions. The use of monoclonal antibodies and antioxidants like melatonin are current areas of interest. Technologies such as digital dermoscopy enhance early detection of neoplasms. In conclusion, the combination of advancements in genomics and new technologies allows for more personalized management of XP. Genetic therapies, like CRISPR-Cas9, are emerging as potential long-term solutions. These strategies may not only improve current care but also pave the way for more effective treatments in the future.
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Copyright (c) 2025 Karina Rossana Lainez Quinde, Scarleth Nathaly Alarcón Idrovo, Carmen Leída Prado Matamba, Lorgia Patricia Andrade Medina , María Gracia Rimbaldo Mantilla
This work is licensed under a Creative Commons Attribution 4.0 International License.
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