Diagnostic challenges in dyskeratosis congenita: Pulmonary fibrosis and multifaceted manifestations

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Case Report

Author Details : Jayabharathi Palanivel, Pratap Upadhya, Zeenathalam Nadaf*, Prabhu Manivannan

Volume : 9, Issue : 3, Year : 2024

Article Page : 110-113

https://doi.org/10.18231/j.ijirm.2024.022

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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.
 

Keywords: Dyskeratosis congenita, Pulmonary fibrosis, Respiratory failure, Avascular necrosis, Aplastic anemia

How to cite : Palanivel J, Upadhya P, Nadaf Z, Manivannan P, Diagnostic challenges in dyskeratosis congenita: Pulmonary fibrosis and multifaceted manifestations. IP Indian J Immunol Respir Med 2024;9(3):110-113

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