Diffuse Lung Disease |

Dyskeratosis Congenita: An Unusual Cause for Pulmonary Fibrosis FREE TO VIEW

Steven Deas, MD; Manish Joshi, MD
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University of Arkansas for Medical Sciences, Little Rock, AR

Chest. 2014;146(4_MeetingAbstracts):392A. doi:10.1378/chest.1989685
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SESSION TITLE: Interstitial Lung Disease Cases II

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Wednesday, October 29, 2014 at 11:00 AM - 12:15 PM

INTRODUCTION: Dyskeratosis congenita (DC) is a rare, inherited disorder characterized by impaired telomere handling which causes bone marrow failure, predisposition to malignancy, and the classic triad of skin hyperpigmentation, nail dystrophy, and oral leukoplakia.1 Pulmonary disease can affect a minority of patients. We present a case of DC complicated by pulmonary fibrosis.

CASE PRESENTATION: A 33-year-old male presented with several months of dyspnea and non-productive cough. He had been diagnosed with dyskeratosis congenita in childhood based on clinical findings. His brother, also affected by the disease, had recently been found to have pulmonary fibrosis. On presentation, the patient had normal oxygen saturation with exertion. Physical exam was significant for diffuse inspiratory crackles as well as inflamed conjunctiva, dystrophic fingernails, alopecia, and hyperpigmentation with scattered hypopigmented macules and patches in a mottled pattern on his chest and back. Pulmonary function testing revealed mild restriction with TLC 71% predicted and DLCO 70% predicted. High resolution computerized tomography (HRCT) of the chest showed bilateral scattered subpleural fibrosis and honeycombing. Surgical biopsy was consistent with usual interstitial pneumonia (UIP). Genetic testing identified a PQ31E mutation in the DKC1 gene, confirming DC. The patient was followed with serial HRCT and pulmonary function testing. His dyspnea, pulmonary function testing, and HRCT remained fairly stable over the next seven years. At nine years after diagnosis, however, total lung capacity and DLCO have decreased to 50% and 56% predicted respectively.

DISCUSSION: DC usually presents in childhood with cutaneous abnormalities. Abnormal processing results in shortened telomeres. Several genetic defects have been implicated and specific mutations can be found in half of affected patients. Most patients develop bone marrow failure.2 Pulmonary involvement occurs in 20% of patients, usually with a UIP pattern. There is no response to corticosteroids and death from respiratory failure is common.3

CONCLUSIONS: Dyskeratosis congenita is a rare cause for pulmonary fibrosis which should be considered in patients with suggestive clinical findings.

Reference #1: Savage S, Alter B. Dyskeratosis congenita. Hematol Oncol Clin N Am 2009;23:215-231.

Reference #2: Calado R, Young N. Telomere diseases. NEJM 2009;361:2353-2365.

Reference #3: Utz J, Ryu J, Myers JL, Michels V. Usual interstitial pneumonia complicating dyskeratosis congenita. Mayo Clin Proc 2005;80(6):817-821.

DISCLOSURE: The following authors have nothing to disclose: Steven Deas, Manish Joshi

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