Abstract
A 27-year-old man was seen at this hospital because of progressive dyspnea and decreased exercise tolerance during the past 2 years. Imaging studies showed diffuse pulmonary fibrosis. The patient had lighter skin than many in his family, although he reported that several family members had light skin and respiratory problems. He had a history of easy bruising. On examination, his skin was pale, and there was clubbing of the fingers and toes, normal breath sounds, pigmented irises, and horizontal nystagmus. A diagnostic procedure was performed.
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