Dyskeratosis Congenita Presenting with Idiopathic Pulmonary Fibrosis: A Rare Case Report

Abstract

Dyskeratosis congenita is a rare inherited disorder of ectodermal dysplasia characterised by the classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leucoplakia, 1-3 at least one of which is present in around 80% to 90% of cases of dyskeratosis congenita. The primary causes of death in patients with dyskeratosis congenita are bone marrow failure and immunodeficiency (60%-70%), pulmonary complications (10%-15%), and malignancy (10%). 4 The present case is being reported because of its extreme rarity in incidence as well as presentation.