Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.

ABSTRACT:

Background

Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in childhood and followed up for a long period of time.

Material and methods

Multicenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020).

Results

Fourteen patients were diagnosed with DC between the ages of 3 and 17 years (median, 8.5 years). They all had hematologic manifestations at diagnosis, and nine developed mucocutaneous manifestations during the first decade of life. Seven presented

SUBMITTER: Uria-Oficialdegui ML 

PROVIDER: S-EPMC10427857 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature