Diagnostic challenges in dyskeratosis congenita: Pulmonary fibrosis and multifaceted manifestations


Article type :

Case Report

Author :

Jayabharathi Palanivel, Pratap Upadhya, Zeenathalam Nadaf*, Karthik B, Prabhu Manivannan

Volume :

9

Issue :

3

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