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Spontaneous pneumothorax

MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
Synonyms: Pneumothorax, Spontaneous; Primary Spontaneous Pneumothorax; Spontaneous Pneumothorax; Spontaneous Pneumothorax, Primary
SNOMED CT: Spontaneous pneumothorax (80423007)
 
HPO: HP:0002108

Definition

Pneumothorax occurring without traumatic injury to the chest or lung. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpontaneous pneumothorax

Conditions with this feature

Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos Syndrome (vEDS) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, recurrent joint subluxation or dislocation, and bruising can occur. Pregnancy for women with vEDS has an estimated 5.3% risk for death from peripartum arterial rupture or uterine rupture. One fourth of individuals with vEDS, confirmed by laboratory testing, experienced a major complication by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 50 years.
Multiple fibrofolliculomas
MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations.
Pneumothorax, primary spontaneous
MedGen UID:
357445
Concept ID:
C1868193
Disease or Syndrome
Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490).

Recent clinical studies

Etiology

Dagnegård HH, Rosén A, Sartipy U, Bergman P
Scand Cardiovasc J 2017 Aug;51(4):228-232. Epub 2017 Apr 17 doi: 10.1080/14017431.2017.1316419. PMID: 28413911
Zhu JF, Shen XQ, Zhu F, Tian L
QJM 2017 Jan;110(1):23-26. Epub 2016 Aug 2 doi: 10.1093/qjmed/hcw109. PMID: 27486260
Kawachi R, Matsuwaki R, Tachibana K, Karita S, Nakazato Y, Tanaka R, Nagashima Y, Takei H, Kondo H
Interact Cardiovasc Thorac Surg 2016 Aug;23(2):190-4. Epub 2016 Apr 18 doi: 10.1093/icvts/ivw107. PMID: 27091938
Gayatridevi Y, Usharani N, Premkumar A, Sambasivarao G, Kumari VS, Joshua S
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):219-23. PMID: 27164729
Huang H, Ji H, Tian H
Biosci Trends 2015 Jun;9(3):193-7. doi: 10.5582/bst.2015.01070. PMID: 26166373

Diagnosis

Dagnegård HH, Rosén A, Sartipy U, Bergman P
Scand Cardiovasc J 2017 Aug;51(4):228-232. Epub 2017 Apr 17 doi: 10.1080/14017431.2017.1316419. PMID: 28413911
Gayatridevi Y, Usharani N, Premkumar A, Sambasivarao G, Kumari VS, Joshua S
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):219-23. PMID: 27164729
Huang H, Ji H, Tian H
Biosci Trends 2015 Jun;9(3):193-7. doi: 10.5582/bst.2015.01070. PMID: 26166373
Adewole OO, De Keukeleire T, Phillips AS, Erhabor G, Noppen M
J Bronchology Interv Pulmonol 2015 Jan;22(1):48-51. doi: 10.1097/LBR.0000000000000134. PMID: 25590483
Saita K, Murakawa T, Kawano H, Sano A, Nagayama K, Nakajima J
Asian Cardiovasc Thorac Ann 2013 Oct;21(5):582-7. Epub 2013 Jul 11 doi: 10.1177/0218492312467174. PMID: 24570561

Therapy

Dagnegård HH, Rosén A, Sartipy U, Bergman P
Scand Cardiovasc J 2017 Aug;51(4):228-232. Epub 2017 Apr 17 doi: 10.1080/14017431.2017.1316419. PMID: 28413911
Kimura M, Miyajima K, Kono T, Hayashi A, Iwaya K, Ikeda N
Thorac Cardiovasc Surg 2017 Jan;65(1):61-64. Epub 2015 Sep 14 doi: 10.1055/s-0035-1564448. PMID: 26366888
Huang H, Ji H, Tian H
Biosci Trends 2015 Jun;9(3):193-7. doi: 10.5582/bst.2015.01070. PMID: 26166373
Imperatori A, Rotolo N, Spagnoletti M, Festi L, Berizzi F, Di Natale D, Nardecchia E, Dominioni L
Interact Cardiovasc Thorac Surg 2015 May;20(5):647-51; discussion 651-2. Epub 2015 Feb 16 doi: 10.1093/icvts/ivv022. PMID: 25690457
Adewole OO, De Keukeleire T, Phillips AS, Erhabor G, Noppen M
J Bronchology Interv Pulmonol 2015 Jan;22(1):48-51. doi: 10.1097/LBR.0000000000000134. PMID: 25590483

Prognosis

Gayatridevi Y, Usharani N, Premkumar A, Sambasivarao G, Kumari VS, Joshua S
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):219-23. PMID: 27164729
Huang H, Ji H, Tian H
Biosci Trends 2015 Jun;9(3):193-7. doi: 10.5582/bst.2015.01070. PMID: 26166373
Imperatori A, Rotolo N, Spagnoletti M, Festi L, Berizzi F, Di Natale D, Nardecchia E, Dominioni L
Interact Cardiovasc Thorac Surg 2015 May;20(5):647-51; discussion 651-2. Epub 2015 Feb 16 doi: 10.1093/icvts/ivv022. PMID: 25690457
Lopez ME, Fallon SC, Lee TC, Rodriguez JR, Brandt ML, Mazziotti MV
Am J Surg 2014 Oct;208(4):571-6. Epub 2014 Jul 24 doi: 10.1016/j.amjsurg.2014.06.009. PMID: 25132627
Serapinas D, Obrikyte V, Vaicius D, Balciuviene R, Valavicius A, Sakalauskas R
Pneumologia 2014 Jan-Mar;63(1):32-5. PMID: 24800593

Clinical prediction guides

Zhu JF, Shen XQ, Zhu F, Tian L
QJM 2017 Jan;110(1):23-26. Epub 2016 Aug 2 doi: 10.1093/qjmed/hcw109. PMID: 27486260
Kawachi R, Matsuwaki R, Tachibana K, Karita S, Nakazato Y, Tanaka R, Nagashima Y, Takei H, Kondo H
Interact Cardiovasc Thorac Surg 2016 Aug;23(2):190-4. Epub 2016 Apr 18 doi: 10.1093/icvts/ivw107. PMID: 27091938
Gayatridevi Y, Usharani N, Premkumar A, Sambasivarao G, Kumari VS, Joshua S
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):219-23. PMID: 27164729
Noh D, Lee S, Haam SJ, Paik HC, Lee DY
Interact Cardiovasc Thorac Surg 2015 Aug;21(2):195-9. Epub 2015 Apr 29 doi: 10.1093/icvts/ivv104. PMID: 25924869
Saita K, Murakawa T, Kawano H, Sano A, Nagayama K, Nakajima J
Asian Cardiovasc Thorac Ann 2013 Oct;21(5):582-7. Epub 2013 Jul 11 doi: 10.1177/0218492312467174. PMID: 24570561

Recent systematic reviews

Sudduth CL, Shinnick JK, Geng Z, McCracken CE, Clifton MS, Raval MV
J Surg Res 2017 Apr;210:32-46. Epub 2016 Nov 3 doi: 10.1016/j.jss.2016.10.024. PMID: 28457339
Xu W, Wang Y, Song J, Mo L, Jiang T
Surg Endosc 2017 Jan;31(1):17-24. Epub 2016 Apr 29 doi: 10.1007/s00464-016-4940-8. PMID: 27129545
Ashby M, Haug G, Mulcahy P, Ogden KJ, Jensen O, Walters JA
Cochrane Database Syst Rev 2014 Dec 18;(12):CD010565. doi: 10.1002/14651858.CD010565.pub2. PMID: 25519778
Lai SM, Tee AK
Eur J Emerg Med 2012 Dec;19(6):400-4. doi: 10.1097/MEJ.0b013e32834ec794. PMID: 22138640
Wakai AP
BMJ Clin Evid 2011 Jan 17;2011 PMID: 21477390Free PMC Article

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