[Genetics and dermatology].
Génétique en dermatologie.
DNA Mutational Analysis
Early Diagnosis
Early Medical Intervention
Genetic Counseling
Genetic Predisposition to Disease
/ genetics
Genetic Testing
Humans
Mosaicism
Neurodegenerative Diseases
/ diagnosis
Risk Factors
Sequence Analysis, DNA
Skin Diseases, Genetic
/ diagnosis
Skin Neoplasms
/ diagnosis
Conseil génétique
Genetic counselling
Genetics
Genodermatoses
Génodermatoses
Génétique
Mosaicism
Mosaïcisme
Mutations
Journal
Annales de dermatologie et de venereologie
ISSN: 0151-9638
Titre abrégé: Ann Dermatol Venereol
Pays: France
ID NLM: 7702013
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
pubmed:
23
4
2019
medline:
18
12
2019
entrez:
23
4
2019
Statut:
ppublish
Résumé
Many types of genodermatosis exist, with numerous modes of transmission. The development of molecular genetic methods, in particular the most recent sequencing techniques, can be used to identify an increasing number of genes involved in these forms of genodermatosis while providing confirmation or more details regarding clinical diagnosis. Thanks to this approach, it is possible to determine risk of recurrence and to formulate an antenatal strategy. These technologies have led to improved molecular definition and to a better understanding of the physiopathological mechanisms involved in different genodermatoses such as bullous epidermolysis, keratinisation disorders, pigmentation disorders, potentially tumoral conditions, and epidermal and pilar dysplasia. The large amount of information provided by high-throughput sequencing makes it possible to study modifying genes as well as genotype-phenotype correlations. However, this genetic information in its turn poses problems of interpretation and of control of the resulting data. The use of genetics in dermatology for the purposes of diagnosis or research requires a consultation to provide patients with information regarding the genetic tests involved and the potential consequences thereof for them and their families. Furthermore, with pangenomic approaches there is a higher probability of fortuitous discovery of abnormalities such as variants associated with risks predisposing to cancer or neurodegenerative disease. Collaboration between dermatologists and geneticists enables optimisation of patient management in terms of diagnosis and genetic counselling in the event of such rare diseases. Therapeutic applications are beginning to be developed. The scope of therapeutic application includes gene therapy, replacement therapy (enzyme therapy) and targeted therapy.
Identifiants
pubmed: 31006539
pii: S0151-9638(19)30087-0
doi: 10.1016/j.annder.2019.02.009
pii:
doi:
Types de publication
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
326-339Informations de copyright
Copyright © 2019. Published by Elsevier Masson SAS.