Open AccessGeneral aspects of xeroderma pigmentosum: A review
Author(s) -
Danilo José Silva Moreira,
Juliana Brito da Fonsêca,
Karoline Rossi,
Suzana dos Santos Vasconcelos,
Vinicius Faustino Lima de Oliveira,
Cláudio Alberto Gellis de Mattos Dias,
Euzébio de Oliveira,
Carla Viana Dendasck,
Maria Helena Mendonça de Araújo,
Maysa Vasconcelos de Brito,
Amanda Alves Fecury
Publication year - 2020
Publication title -
núcleo do conhecimento
Language(s) - English
Resource type - Journals
ISSN - 2448-0959
DOI - 10.32749/nucleodoconhecimento.com.br/health/xeroderma-pigmentosum
Subject(s) - xeroderma pigmentosum , dna repair , genetics , nucleotide excision repair , dna polymerase , medicine , biology , dna
Xeroderma Pigmentoso (XP) is a rare, recessive and autosomal genetic disease that also affects both sexes and all ethnicities, being closely associated with communities with a high rate of inbreeding. The aim of this review was to detail the main routes of DNA repair of XP, the different functional defects that result in the development of the 8 types of XP, the main characteristics of the clinical picture of a patient with XP, the main comorbidities associated with XP, and the treatments available or that are still in studies for individuals affected by XP. The bibliographic research was carried out in the databases: Redalyc, Institutional Repository of the Federal University of Juiz de Fora, Scielo, Brazilian Digital Library of Theses and Dissertations, Science Research.com, Lilacs and Pub Med, using keywords or their associations: Xeroderma – Xeroderma Pigmentoso. XP is a genetic disease that has no cure; the individual with XP has a photosensitive skin and, when exposed to UV radiation, may develop several dermatological complications; the manifestations of XP are directly linked to the genetic defect; NER is undoubtedly the main route of DNA repair when it comes to XP; in XP-V the by-pass of the tape with the DNA lesion is not done by polymerase pol eta but by another polymerase of the Family Y; defects in DNA repair pathways can cause not only XP, but also other diseases; and the treatment for XP is palliative. It consists of the use of specific UV protectors, drugs, repair enzymes and adenoviral vectors, as well as cryosurgery, photodynamic therapy (PDT), surgical removal of tumors and psychological follow-up.