X-linked congenital dyskeratosis

Abstract

Dyskeratosis congenita is a rare genetic disorder with approximately 180 cases reported in the literature.

Objective: To present the case of a boy, in whom the diagnosis was clinically suspected and later confirmed by molecular analysis of the Dyskerin gene.

Clinical Case: A school age boy with a history of anemia resistant to treatment, and severe bacterial infections, who presented with reticulated pigmentation of the skin, nail dystrophy, oral leukoplakia and progressive pancitopenia. Molecular analysis revealed a mutation in the DKC1 gene, that results in an aminoacid change from alanine to valine.

Conclusion: Dyskeratosis congenita is a rare inherited disease characterised by cutaneous reticulated hyperpigmentation, nail dystrophy, oral leukoplakia and progressive pancytopenia. The mutation detected in this patient is an important cause of dyskeratosis congenita worldwide.