Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and the neurological, ocular and skeletal systems. Many are unaware of the extent of pulmonary involvement, including lung cysts and emphysematous bullae, which enhances the risk of secondary spontaneous pneumothorax (SSP). W...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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SMC MEDIA SRL
2023-10-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/4046 |
| _version_ | 1797645453967228928 |
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| author | Mariana Guerra Inês Farinha Daniela Marado |
| author_facet | Mariana Guerra Inês Farinha Daniela Marado |
| author_sort | Mariana Guerra |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and the neurological, ocular and skeletal systems. Many are unaware of the extent of pulmonary involvement, including lung cysts and emphysematous bullae, which enhances the risk of secondary spontaneous pneumothorax (SSP). We report the case of an 18-year-old male with NF1 who presented with acute dyspnoea and chest pain due to a right-sided pneumothorax caused by the rupture of lung apical bullae. The patient received supplemental oxygen and a chest tube of 18F was inserted, with a complete resolution of the pneumothorax. He was discharged on the third day of hospital stay.
This case highlights the importance of considering SSP as a possible clinical manifestation and complication of NF1. Early recognition and appropriate management of this condition can prevent serious complications and improve patient outcomes. |
| first_indexed | 2024-03-11T14:46:34Z |
| format | Article |
| id | doaj.art-bed5f6bcd03f4e7bb25dd95789d7013f |
| institution | Directory Open Access Journal |
| issn | 2284-2594 |
| language | English |
| last_indexed | 2024-03-11T14:46:34Z |
| publishDate | 2023-10-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj.art-bed5f6bcd03f4e7bb25dd95789d7013f2023-10-30T11:03:53ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942023-10-0110.12890/2023_0040463581Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1Mariana Guerra0Inês Farinha1Daniela Marado2Department of Internal Medicine, Hospital and University Centre of Coimbra, Coimbra, PortugalDepartment of Pulmonology, Hospital and University Centre of Coimbra, Coimbra, PortugalDepartment of Internal Medicine, Hospital and University Centre of Coimbra, Coimbra, PortugalNeurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and the neurological, ocular and skeletal systems. Many are unaware of the extent of pulmonary involvement, including lung cysts and emphysematous bullae, which enhances the risk of secondary spontaneous pneumothorax (SSP). We report the case of an 18-year-old male with NF1 who presented with acute dyspnoea and chest pain due to a right-sided pneumothorax caused by the rupture of lung apical bullae. The patient received supplemental oxygen and a chest tube of 18F was inserted, with a complete resolution of the pneumothorax. He was discharged on the third day of hospital stay. This case highlights the importance of considering SSP as a possible clinical manifestation and complication of NF1. Early recognition and appropriate management of this condition can prevent serious complications and improve patient outcomes.https://www.ejcrim.com/index.php/EJCRIM/article/view/4046pneumothoraxneurofibromatosis type 1bullous lung disease |
| spellingShingle | Mariana Guerra Inês Farinha Daniela Marado Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 European Journal of Case Reports in Internal Medicine pneumothorax neurofibromatosis type 1 bullous lung disease |
| title | Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| title_full | Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| title_fullStr | Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| title_full_unstemmed | Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| title_short | Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| title_sort | spontaneous primary pneumothorax as a complication of neurofibromatosis type 1 |
| topic | pneumothorax neurofibromatosis type 1 bullous lung disease |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/4046 |
| work_keys_str_mv | AT marianaguerra spontaneousprimarypneumothoraxasacomplicationofneurofibromatosistype1 AT inesfarinha spontaneousprimarypneumothoraxasacomplicationofneurofibromatosistype1 AT danielamarado spontaneousprimarypneumothoraxasacomplicationofneurofibromatosistype1 |