Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report.

ABSTRACT:

Introduction

Dyskeratosis congenita is a rare genetic disorder characterized by abnormalities of the skin, nails, and oral mucosa. Retinal involvement in this condition is uncommon. Here, we present a case of a young male patient diagnosed with presumptive cytomegalovirus retinitis, ultimately found to be concomitant with dyskeratosis congenita.

Case presentation

A non-HIV-infected young male with recurrent infections, including aspergillus pneumonia and pneumocystis pneumonia, presented with presumptive cytomegalovirus retinitis in both eyes. Systemic manifestations included cutaneous hyperpigmentation, nail dystrophy, and oral mucosal leukoplakia. Genetic testing revealed a mutation in the DKC1 gene. The final diagnosis was dyskeratosis congenita complicated by presumptive

SUBMITTER: Du Y 

PROVIDER: S-EPMC11324264 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature