Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
clinic
dyskeratosis congenita
etiology
telomeropathies
treatment
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
11 03 2022
11 03 2022
Historique:
received:
29
11
2021
revised:
07
03
2022
accepted:
08
03
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
27
4
2022
Statut:
epublish
Résumé
Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.
Identifiants
pubmed: 35328050
pii: genes13030496
doi: 10.3390/genes13030496
pmc: PMC8953471
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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