Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis

Abstract

Dyskeratosis congenita is a rare genetic disorder of telomere insufficiency characterized by a mucocutaneous triad of nail dystrophy, abnormal skin pigmentation, and mucosal leukoplakia. Early diagnosis is important for multidisciplinary approach to its complications including bone marrow failure, malignancy, interstitial lung disease, and liver disease which cause significant morbidity and mortality. We report a genetically confirmed case of dyskeratosis congenita who presented with fibrotic hypersensitivity pneumonitis, highlighting non-mucocutaneous features of dyskeratosis congenita and the need to consider genetic predisposition in a patient with interstitial lung disease and combined unusual manifestations.

Keywords

• Dyskeratosis congenita
• Fibrotic hypersensitivity pneumonitis
• Interstitial lung disease
• Liver cirrhosis
• Telomeropathy