# Cirrhosis of Liver in Patients With Dyskeratosis Congenita: A Report of Two Cases

## TL;DR

This paper reports two cases of adult men with dyskeratosis congenita who developed severe liver disease, highlighting the importance of recognizing this rare genetic disorder in patients with unexplained cirrhosis.

## Contribution

The novelty lies in presenting two rare cases linking dyskeratosis congenita with decompensated chronic liver disease in adults.

## Key findings

- Dyskeratosis congenita can lead to severe liver disease, including cirrhosis.
- Early recognition of DC can help manage complications like portal hypertension.
- Clinicians should consider DC in young patients with cryptogenic cirrhosis and cytopenias.

## Abstract

Dyskeratosis congenita (DC) is a genetic disorder characterized by multisystem involvement. The most commonly affected systems are the mucocutaneous, bone marrow, and lungs. Though rare, chronic liver disease (CLD) has increasingly been reported to be associated with DC. The hepatic involvement can range from asymptomatic transaminasemia to end‐stage liver disease. In this series, we present two cases of adult male patients with DC and decompensated CLD.

Dyskeratosis congenita, a form of telomeropathy, should be considered in young patients with cryptogenic cirrhosis, especially when accompanied by cytopenias. Clinicians should actively look for the mucocutaneous triad, which includes reticular hyperpigmentation, nail dystrophy, and oral leukoplakia. Though DC is an incurable disease, early recognition enables timely surveillance and management of portal hypertension–related complications.

Classical mucocuaneous triad of dyskeratosis congenita in a patient with decompensated cirrhosis.