XERODERMA PIGMENTOSUM: A LITERATURE REVIEW
OBJECTIVES: This review aimed to group studies related to xeroderma pigmentosum, presenting their means of diagnosis and current therapeutic strategies. METHODS: A search was carried out in the PubMed and Virtual Health Library (BVSALUD) databases using the descriptors: "XERODERMA PIGMENTOSUM", "XERODERMA PIGMENTOSO", "DNA REPAIR", "SKIN CANCER", "PHOTOSENSITIVITY", "CUTANEOUS NEOPLASMS" and “PHOTOSENSITIVITY” in the last 10 years, analyzing and applying the inclusion and exclusion criteria. In the end, 8 articles were selected. DISCUSSION: Xeroderma Pigmentosum is an autosomal recessive disease, being of hereditary character and that increases the prevalence of cutaneous neoplasms and is subdivided into 7 groups in which the error is in the NER protein (Nucleotide Excision Repair) and 1 group with defect in the DNA polymerase. Based on the intensity and type of UV light and on the mutation presented, the clinical picture may vary, being milder or more aggressive, and may affect only the skin, nervous system or more than one system, also causing internal tumors. The diagnosis is clinical, but molecular tests to evaluate DNA synthesis in cells exposed to the sun and complementary analyzes can be performed to better define the alteration. When it comes to therapeutic strategies, currently the most used is sunlight deprivation since childhood, while other forms of management are still being studied. CONCLUSIONS: It is concluded that Xeroderma Pigmentosum is a disease of difficult control, diagnosis and management, requiring further studies on the subject and universal access to early diagnostic methods, enabling adequate prophylaxis in order to avoid future complications from the disease.
XERODERMA PIGMENTOSUM: A LITERATURE REVIEW
-
DOI: 10.22533/at.ed.15921322030310
-
Palavras-chave: Xeroderma pigmentosum; Xeroderma pigmentosum; DNA repair; Skin cancer; Photosensitivity; Skin neoplasms; photosensitivity.
-
Keywords: Xeroderma pigmentosum; Xeroderma pigmentosum; DNA repair; Skin cancer; Photosensitivity; Skin neoplasms; photosensitivity.
-
Abstract:
OBJECTIVES: This review aimed to group studies related to xeroderma pigmentosum, presenting their means of diagnosis and current therapeutic strategies. METHODS: A search was carried out in the PubMed and Virtual Health Library (BVSALUD) databases using the descriptors: "XERODERMA PIGMENTOSUM", "XERODERMA PIGMENTOSO", "DNA REPAIR", "SKIN CANCER", "PHOTOSENSITIVITY", "CUTANEOUS NEOPLASMS" and “PHOTOSENSITIVITY” in the last 10 years, analyzing and applying the inclusion and exclusion criteria. In the end, 8 articles were selected. DISCUSSION: Xeroderma Pigmentosum is an autosomal recessive disease, being of hereditary character and that increases the prevalence of cutaneous neoplasms and is subdivided into 7 groups in which the error is in the NER protein (Nucleotide Excision Repair) and 1 group with defect in the DNA polymerase. Based on the intensity and type of UV light and on the mutation presented, the clinical picture may vary, being milder or more aggressive, and may affect only the skin, nervous system or more than one system, also causing internal tumors. The diagnosis is clinical, but molecular tests to evaluate DNA synthesis in cells exposed to the sun and complementary analyzes can be performed to better define the alteration. When it comes to therapeutic strategies, currently the most used is sunlight deprivation since childhood, while other forms of management are still being studied. CONCLUSIONS: It is concluded that Xeroderma Pigmentosum is a disease of difficult control, diagnosis and management, requiring further studies on the subject and universal access to early diagnostic methods, enabling adequate prophylaxis in order to avoid future complications from the disease.
-
Número de páginas: 13
- Alessandra Valero Gerab
- Isabela Silva de Carvalho
- Amanda Bertazzoli Diogo
- Rafael Correia Naletto
