Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia
Journal Title: Journal of Krishna Institute of Medical Sciences University - Year 2017, Vol 6, Issue 1
Abstract
Dyskeratosis Congenita (DC) is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%. It is characterized by Idiopathic Pulmonary Fibrosis (IPF), or Idiopathic Familial Pulmonary Fibrosis (IFPF). Non-specific Interstitial Pneumonia (NSIP) has been reported rarely in children with DC and in an isolated adult patient. Our patient had classical clinical presentation of DC with pancytopenia and portal hypertension and clinic-radiological features of NSIP which is a rare association.
Authors and Affiliations
Unnati Desai, Jyotsna M Joshi
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