Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure

An 18-year-old man presented to the National Institutes of Health (NIH) Clinical Center in Bethesda, Maryland, with dyspigmentation and nail dystrophy. His birth history was notable for intrauterine growth restriction (IUGR) and microcephaly. He was hospitalized at 6 weeks of age for respiratory distress and was found to have severe anemia, dilated cardiomyopathy, and cerebellar atrophy (Fig 1). At age 1 year he developed oral leukoplakia and esophageal strictures requiring multiple dilations. By age 3 he developed thrombocytopenia that progressed to multilineage bone marrow failure (BMF).