DYSKERATOSIS CONGENITA: A RARE CAUSE OF USUAL INTERSTITIAL PNEUMONIA

Abstract

SESSION TITLE: Genetic and Developmental Disorders Case Report PostersSESSION TYPE: Case Report PostersPRESENTED ON: 10/17/2022 12:15 pm - 01:15 pmINTRODUCTION: Dyskeratosis congentia (DC) is a rare inherited disorder with a male predominance that is usually characterized by a triad of nail dystrophy, leukoplakia and skin hyperpigmentation. We present a case of Usual Interstitial Pneumonia (UIP) in a 38-year-old male who was diagnosed with DC in childhood.CASE PRESENTATION: 38-year-old male with past medical history of DC diagnosed in childhood and a 5 year history of vaping presented with progressively worsening shortness of breath over the past 2 months. On arrival, patient was hypoxic with oxygen saturation at 60% on room air which improved with administration of oxygen. On examination, patient was noted to be tachypneic with decreased air entry and crackles at bilateral lung bases. Laboratory investigations on admission were within normal limits but notable for a normocytic anemia. Chest x-ray revealed bilateral interstitial opacities and computed tomography (CT) of the chest showed bibasal honeycombing and thickening of the pulmonary interstitium along with associated bronchiectasis consistent with Usual Interstitial Pneumonia. He was started on methylprednisone and transitioned to a prednisone taper on discharge. Autoimmune workup showed an erythrocyte sedimentation rate of 70, C-reactive protein of 2.3 and negative rheumatoid factor, anti-SSA,-SSB and -Jo antibodies. Pulmonary function testing was notable for severe restrictive disease. At the time of writing, patient was readmitted due to acute hypoxic respiratory failure and is now being evaluated for lung transplant.DISCUSSION: DC is due to abnormal telomere activity which results in the classic triad of nail dystrophy, leukoplakia and skin hyperpigmentation (1). Mortality and morbidity in DC is mostly associated with bone marrow failure, hematologic malignancy, solid tumors and interstitial lung disease (ILD) (1). As with our patient, UIP has been shown to be the most common pattern of ILD associated with DC (2). Diagnosis of UIP can be established either through imaging or lung biopsy. In our patient, the diagnosis was made by high-resolution CT scan which revealed the characteristic radiologic findings of basilar predominant honeycombing and traction bronchiectasis. To date, there have not been any case reports in literature that have identified any success in treating or effectively managing UIP associated with DC which is similar to our experience. We were able to identify one reported case in literature where bilateral lung transplantation resulted in improved quality of life and prolonged survival although this was in a patient who underwent hematopoietic stem cell transplant for aplastic anemia (3).CONCLUSIONS: This case report seeks to add to the existing literature on the pulmonary complications associated with DC and is a reminder that DC is associated with UIP. Given the lack of treatment options, lung transplant should be considered early in the disease course.Reference #1: Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008 Jan;90(1):122–30.Reference #2: Utz JP, Ryu JH, Myers JL, Michels V V. Usual interstitial pneumonia complicating dyskeratosis congenita. Mayo Clin Proc. 2005 Jun;80(6):817–21.Reference #3: Giri N, Lee R, Faro A, Huddleston CB, White F V, Alter BP, et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review. BMC Blood Disord. 2011 Jun;11:3.DISCLOSURES: No relevant relationships by Hemanth Krishna BoppanaNo relevant relationships by Frank GeneseNo relevant relationships by Chengu NiuNo relevant relationships by Damanpaul Sondhi SESSION TITLE: Genetic and Developmental Disorders Case Report Posters SESSION TYPE: Case Report Posters PRESENTED ON: 10/17/2022 12:15 pm - 01:15 pm INTRODUCTION: Dyskeratosis congentia (DC) is a rare inherited disorder with a male predominance that is usually characterized by a triad of nail dystrophy, leukoplakia and skin hyperpigmentation. We present a case of Usual Interstitial Pneumonia (UIP) in a 38-year-old male who was diagnosed with DC in childhood. CASE PRESENTATION: 38-year-old male with past medical history of DC diagnosed in childhood and a 5 year history of vaping presented with progressively worsening shortness of breath over the past 2 months. On arrival, patient was hypoxic with oxygen saturation at 60% on room air which improved with administration of oxygen. On examination, patient was noted to be tachypneic with decreased air entry and crackles at bilateral lung bases. Laboratory investigations on admission were within normal limits but notable for a normocytic anemia. Chest x-ray revealed bilateral interstitial opacities and computed tomography (CT) of the chest showed bibasal honeycombing and thickening of the pulmonary interstitium along with associated bronchiectasis consistent with Usual Interstitial Pneumonia. He was started on methylprednisone and transitioned to a prednisone taper on discharge. Autoimmune workup showed an erythrocyte sedimentation rate of 70, C-reactive protein of 2.3 and negative rheumatoid factor, anti-SSA,-SSB and -Jo antibodies. Pulmonary function testing was notable for severe restrictive disease. At the time of writing, patient was readmitted due to acute hypoxic respiratory failure and is now being evaluated for lung transplant. DISCUSSION: DC is due to abnormal telomere activity which results in the classic triad of nail dystrophy, leukoplakia and skin hyperpigmentation (1). Mortality and morbidity in DC is mostly associated with bone marrow failure, hematologic malignancy, solid tumors and interstitial lung disease (ILD) (1). As with our patient, UIP has been shown to be the most common pattern of ILD associated with DC (2). Diagnosis of UIP can be established either through imaging or lung biopsy. In our patient, the diagnosis was made by high-resolution CT scan which revealed the characteristic radiologic findings of basilar predominant honeycombing and traction bronchiectasis. To date, there have not been any case reports in literature that have identified any success in treating or effectively managing UIP associated with DC which is similar to our experience. We were able to identify one reported case in literature where bilateral lung transplantation resulted in improved quality of life and prolonged survival although this was in a patient who underwent hematopoietic stem cell transplant for aplastic anemia (3). CONCLUSIONS: This case report seeks to add to the existing literature on the pulmonary complications associated with DC and is a reminder that DC is associated with UIP. Given the lack of treatment options, lung transplant should be considered early in the disease course. Reference #1: Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008 Jan;90(1):122–30. Reference #2: Utz JP, Ryu JH, Myers JL, Michels V V. Usual interstitial pneumonia complicating dyskeratosis congenita. Mayo Clin Proc. 2005 Jun;80(6):817–21. Reference #3: Giri N, Lee R, Faro A, Huddleston CB, White F V, Alter BP, et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review. BMC Blood Disord. 2011 Jun;11:3. DISCLOSURES: No relevant relationships by Hemanth Krishna Boppana No relevant relationships by Frank Genese No relevant relationships by Chengu Niu No relevant relationships by Damanpaul Sondhi