Clinical and genetic phenotype of collagen VI-related dystrophy patients with pneumothorax (PTX)
| Patient | Clinical phenotype | Age at PTX years | Genetic mutation(s) | Chronic ventilation at time of PTX | Recurrent PTX | CT scan with parenchymal changes | PTX treatments |
| 1 | Intermediate# | At birth | COL6A2 gene (c.115+2T>C, c.1070_1070delC) | No | No | NA | Oxygen only |
| 2 | Intermediate# | At birth | Same as 1 | No | No | NA | Oxygen only |
| 3 | Ullrich¶ | 13 | COL6A3 gene (c.7264C>T, c.7669–2delA) | IPPV | Yes | No | Thoracostomy tube |
| 4 | Intermediate# | 37 | COL6A1 gene (c.842G>A, p.G281E) | IPPV | Yes | Yes | Thoracostomy tubes Open pleurodesis |
| 5 | Ullrich¶ | 26 | COL6A1 gene (c.868G>A, p.G290R) | NIPPV | Yes | Yes | Thoracostomy tubes Observation for small PTX |
| Choo-Kang et al. [5] | Intermediate# | 26 | Unknown | NIPPV | Yes | Yes | Thoracostomy tube Chemical pleurodesis Open pleurodesis |
CT: computed tomography. IPPV: invasive positive pressure ventilation; NIPPV: noninvasive positive pressure ventilation; NA: not available. #: ambulant until adulthood with progressive respiratory insufficiency; ¶: ambulation never achieved or lost prior to age 10 years.