PMC4835171_01
Histopathology of lung biopsy specimens from patients A1, B1, and B2 (hematoxylin and eosin staining). The findings were similar in all 3 patients and showed severe proliferative diffuse alveolar damage with large, bizarre, hyperchromatic nuclei (black arrows), suggestive of a DNA repair defect. Patient A1 also had multiple eosinophils (white arrows).
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PMC4835171_03_nihms769317f1.jpg
F1
Both brothers had lung biopsy findings similar to those seen in the siblings in family A (Figure 1, B and C).
PMC4835171_02
Diagnostic imaging studies and lung biopsy histopathology from patient A2. A, Chest radiograph at presentation. B, Chest computed tomography, performed 4 days after admission. C, Histopathological analysis showing severe proliferative diffuse alveolar damage with large, bizarre, hyperchromatic nuclei in interstitial cells (black arrow).
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F2
Imaging studies demonstrated bilateral diffuse infiltrates (Figure 2, A and B). Lung biopsy revealed proliferative diffuse alveolar damage with the same enlarged pleiomorphic and hyperchromatic nuclei in pneumocytes and interstitial cells seen in her brother's biopsy specimen, but with an absence of eosinophilia (Figure 2, C).
PMC4835171_03
Histopathology of lung biopsy specimens from patients A1, B1, and B2 (hematoxylin and eosin staining). The findings were similar in all 3 patients and showed severe proliferative diffuse alveolar damage with large, bizarre, hyperchromatic nuclei (black arrows), suggestive of a DNA repair defect. Patient A1 also had multiple eosinophils (white arrows).
nihms769317f1.jpg
PMC4835171_03_nihms769317f1.jpg
F1
Both brothers had lung biopsy findings similar to those seen in the siblings in family A (Figure 1, B and C).