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Review
. 2022 Mar 11;13(3):496.
doi: 10.3390/genes13030496.

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Michele Callea  1 , Diego Martinelli  2 , Francisco Cammarata-Scalisi  3 , Chiara Grimaldi  4 , Houweyda Jilani  5   6 , Piercesare Grimaldi  7 , Colin Eric Willoughby  8 , Antonino Morabito  4   9
Affiliations
Review

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Michele Callea et al. Genes (Basel). .

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.

Keywords: clinic; dyskeratosis congenita; etiology; telomeropathies; treatment.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

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