Abstract :
Introduction: Dyskeratosis Congenita (DC) is a rare genetic syndrome characterized by mucocutaneous abnormalities, often complicating into progressive life-threatening systemic manifestations like bone marrow failure, increased rate of malignancy, lung, and liver diseases.
Case Details: Here is a case of a man in his 20s presenting with pulmonary fibrosis, who exhibited classic DC skin and nail changes, along with a history of avascular necrosis. Despite the absence of a family history, a thorough evaluation led to a diagnosis of DC.
Conclusion: This report sheds light on the urgency for early recognition and intervention. The absence of a definitive treatment protocol for DC-related pulmonary fibrosis emphasizes the need for further research in this area.
Keyword :
Dyskeratosis congenita, Pulmonary fibrosis, Respiratory failure, Avascular necrosis, Aplastic anemia