Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

ABSTRACT:

Background

Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies. Several genes have been implicated in the pathogenesis of dyskeratosis congenita, with the dyskerin pseudouridine synthase 1 (DKC1) gene mutations being the X-linked recessive gene.

Case presentation</

SUBMITTER: Ratnasamy V 

PROVIDER: S-EPMC5970516 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature