In:
Genes, MDPI AG, Vol. 13, No. 3 ( 2022-03-11), p. 496-
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2073-4425
DOI:
10.3390/genes13030496
Language:
English
Publisher:
MDPI AG
Publication Date:
2022
detail.hit.zdb_id:
2527218-4
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