Revisão Acesso aberto Revisado por pares

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

2022; Multidisciplinary Digital Publishing Institute; Volume: 13; Issue: 3 Linguagem: Inglês

10.3390/genes13030496

ISSN

2073-4425

Autores

Michele Callea, Diego Martinelli, Francisco Cammarata-Scalisi, Chiara Grimaldi, Houweyda Jilani, Piercesare Grimaldi, Colin E. Willoughby, Antonino Morabito,

Tópico(s)

Advanced biosensing and bioanalysis techniques

Resumo

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.

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