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Pneumothorax

MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
Synonym: Pneumothorax (disease)
SNOMED CT: Pneumothorax (36118008)
 
HPO: HP:0002107
Monarch Initiative: MONDO:0002076

Definition

Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. [from HPO]

Conditions with this feature

Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Ehlers-Danlos syndrome, musculocontractural type
MedGen UID:
356497
Concept ID:
C1866294
Disease or Syndrome
Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Sarcoidosis, susceptibility to, 2
MedGen UID:
436694
Concept ID:
C2676468
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
Fontaine progeroid syndrome
MedGen UID:
394125
Concept ID:
C2676780
Disease or Syndrome
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Loeys-Dietz syndrome 4
MedGen UID:
766676
Concept ID:
C3553762
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
MedGen UID:
1648498
Concept ID:
C4748135
Disease or Syndrome
Warburg-cinotti syndrome
MedGen UID:
1677486
Concept ID:
C5193019
Disease or Syndrome
Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Parkinsonism-dystonia 3, childhood-onset
MedGen UID:
1808365
Concept ID:
C5676913
Disease or Syndrome
Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances (summary by Burke et al., 2018 and Skorvanek et al., 2022). For a discussion of genetic heterogeneity of PKDYS, see 613135.
Meckel syndrome 14
MedGen UID:
1809650
Concept ID:
C5676989
Disease or Syndrome
Meckel syndrome-14 (MKS14) is a lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Stillbirth has been reported, as well as death within hours in a live-born affected individual (Shaheen et al., 2016; Ridnoi et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Neurodegeneration and seizures due to copper transport defect
MedGen UID:
1841021
Concept ID:
C5830385
Disease or Syndrome
Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023).

Professional guidelines

PubMed

DeMaio A, Semaan R
Clin Chest Med 2021 Dec;42(4):729-738. doi: 10.1016/j.ccm.2021.08.008. PMID: 34774178
Tran J, Haussner W, Shah K
J Emerg Med 2021 Nov;61(5):517-528. Epub 2021 Aug 29 doi: 10.1016/j.jemermed.2021.07.006. PMID: 34470716
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615

Recent clinical studies

Etiology

DeMaio A, Semaan R
Clin Chest Med 2021 Dec;42(4):729-738. doi: 10.1016/j.ccm.2021.08.008. PMID: 34774178
Huan NC, Sidhu C, Thomas R
Clin Chest Med 2021 Dec;42(4):711-727. doi: 10.1016/j.ccm.2021.08.007. PMID: 34774177
Tran J, Haussner W, Shah K
J Emerg Med 2021 Nov;61(5):517-528. Epub 2021 Aug 29 doi: 10.1016/j.jemermed.2021.07.006. PMID: 34470716
Wakai AP
BMJ Clin Evid 2011 Jan 17;2011 PMID: 21477390Free PMC Article
Baumann MH, Strange C, Heffner JE, Light R, Kirby TJ, Klein J, Luketich JD, Panacek EA, Sahn SA; AACP Pneumothorax Consensus Group
Chest 2001 Feb;119(2):590-602. doi: 10.1378/chest.119.2.590. PMID: 11171742

Diagnosis

DeMaio A, Semaan R
Clin Chest Med 2021 Dec;42(4):729-738. doi: 10.1016/j.ccm.2021.08.008. PMID: 34774178
Huan NC, Sidhu C, Thomas R
Clin Chest Med 2021 Dec;42(4):711-727. doi: 10.1016/j.ccm.2021.08.007. PMID: 34774177
Edwards JD, Anciano CJ, Bard MR
Am Surg 2019 Sep 1;85(9):e465-e467. PMID: 31638540
Imran JB, Eastman AL
JAMA 2017 Sep 12;318(10):974. doi: 10.1001/jama.2017.10476. PMID: 28898380
Arshad H, Young M, Adurty R, Singh AC
Crit Care Nurs Q 2016 Apr-Jun;39(2):176-89. doi: 10.1097/CNQ.0000000000000110. PMID: 26919678

Therapy

Brown SGA, Ball EL, Perrin K, Asha SE, Braithwaite I, Egerton-Warburton D, Jones PG, Keijzers G, Kinnear FB, Kwan BCH, Lam KV, Lee YCG, Nowitz M, Read CA, Simpson G, Smith JA, Summers QA, Weatherall M, Beasley R; PSP Investigators
N Engl J Med 2020 Jan 30;382(5):405-415. doi: 10.1056/NEJMoa1910775. PMID: 31995686
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615
Franklin D, Babl FE, Schlapbach LJ, Oakley E, Craig S, Neutze J, Furyk J, Fraser JF, Jones M, Whitty JA, Dalziel SR, Schibler A
N Engl J Med 2018 Mar 22;378(12):1121-1131. doi: 10.1056/NEJMoa1714855. PMID: 29562151
Klingenberg C, Wheeler KI, McCallion N, Morley CJ, Davis PG
Cochrane Database Syst Rev 2017 Oct 17;10(10):CD003666. doi: 10.1002/14651858.CD003666.pub4. PMID: 29039883Free PMC Article
Writing Group for the Alveolar Recruitment for Acute Respiratory Distress Syndrome Trial (ART) Investigators, Cavalcanti AB, Suzumura ÉA, Laranjeira LN, Paisani DM, Damiani LP, Guimarães HP, Romano ER, Regenga MM, Taniguchi LNT, Teixeira C, Pinheiro de Oliveira R, Machado FR, Diaz-Quijano FA, Filho MSA, Maia IS, Caser EB, Filho WO, Borges MC, Martins PA, Matsui M, Ospina-Tascón GA, Giancursi TS, Giraldo-Ramirez ND, Vieira SRR, Assef MDGPL, Hasan MS, Szczeklik W, Rios F, Amato MBP, Berwanger O, Ribeiro de Carvalho CR
JAMA 2017 Oct 10;318(14):1335-1345. doi: 10.1001/jama.2017.14171. PMID: 28973363Free PMC Article

Prognosis

GBD 2019 Adolescent Young Adult Cancer Collaborators
Lancet Oncol 2022 Jan;23(1):27-52. Epub 2021 Dec 3 doi: 10.1016/S1470-2045(21)00581-7. PMID: 34871551Free PMC Article
Italiano A, Mir O, Mathoulin-Pelissier S, Penel N, Piperno-Neumann S, Bompas E, Chevreau C, Duffaud F, Entz-Werlé N, Saada E, Ray-Coquard I, Lervat C, Gaspar N, Marec-Berard P, Pacquement H, Wright J, Toulmonde M, Bessede A, Crombe A, Kind M, Bellera C, Blay JY
Lancet Oncol 2020 Mar;21(3):446-455. Epub 2020 Feb 17 doi: 10.1016/S1470-2045(19)30825-3. PMID: 32078813Free PMC Article
Mendogni P, Vannucci J, Ghisalberti M, Anile M, Aramini B, Congedo MT, Nosotti M, Bertolaccini L; Collaborators of the Pneumothorax Working Group, on behalf of the Italian Society for Thoracic Surgery (endorsed by the Italian Ministry of Health) Collaborators of the Pneumothorax Working Group, D'Ambrosio AE, De Vico A, Guerrera F, Imbriglio G, Pardolesi A, Schiavon M, Russo E
Interact Cardiovasc Thorac Surg 2020 Mar 1;30(3):337-345. doi: 10.1093/icvts/ivz290. PMID: 31858124
Wilky BA, Trucco MM, Subhawong TK, Florou V, Park W, Kwon D, Wieder ED, Kolonias D, Rosenberg AE, Kerr DA, Sfakianaki E, Foley M, Merchan JR, Komanduri KV, Trent JC
Lancet Oncol 2019 Jun;20(6):837-848. Epub 2019 May 8 doi: 10.1016/S1470-2045(19)30153-6. PMID: 31078463
Yamamoto L, Schroeder C, Morley D, Beliveau C
Crit Care Nurs Q 2005 Jan-Mar;28(1):22-40. doi: 10.1097/00002727-200501000-00004. PMID: 15732422

Clinical prediction guides

Fitzpatrick ER
Crit Care Nurs Clin North Am 2023 Jun;35(2):129-144. Epub 2023 Mar 27 doi: 10.1016/j.cnc.2023.02.005. PMID: 37127370
Raimondi F, Migliaro F, Corsini I, Meneghin F, Dolce P, Pierri L, Perri A, Aversa S, Nobile S, Lama S, Varano S, Savoia M, Gatto S, Leonardi V, Capasso L, Carnielli VP, Mosca F, Dani C, Vento G, Lista G
Pediatrics 2021 Apr;147(4) Epub 2021 Mar 9 doi: 10.1542/peds.2020-030528. PMID: 33688032
Piccolo CL, Ianniello S, Trinci M, Galluzzo M, Tonerini M, Zeccolini M, Guglielmi G, Miele V
Radiol Med 2017 Nov;122(11):850-865. Epub 2017 Jul 4 doi: 10.1007/s11547-017-0783-1. PMID: 28674910
Canet J, Gallart L, Gomar C, Paluzie G, Vallès J, Castillo J, Sabaté S, Mazo V, Briones Z, Sanchis J; ARISCAT Group
Anesthesiology 2010 Dec;113(6):1338-50. doi: 10.1097/ALN.0b013e3181fc6e0a. PMID: 21045639
Baumann MH, Strange C, Heffner JE, Light R, Kirby TJ, Klein J, Luketich JD, Panacek EA, Sahn SA; AACP Pneumothorax Consensus Group
Chest 2001 Feb;119(2):590-602. doi: 10.1378/chest.119.2.590. PMID: 11171742

Recent systematic reviews

Kops SEP, Heus P, Korevaar DA, Damen JAA, Idema DL, Verhoeven RLJ, Annema JT, Hooft L, van der Heijden EHFM
Lung Cancer 2023 Jun;180:107196. Epub 2023 Apr 19 doi: 10.1016/j.lungcan.2023.107196. PMID: 37130440
Mendogni P, Vannucci J, Ghisalberti M, Anile M, Aramini B, Congedo MT, Nosotti M, Bertolaccini L; Collaborators of the Pneumothorax Working Group, on behalf of the Italian Society for Thoracic Surgery (endorsed by the Italian Ministry of Health) Collaborators of the Pneumothorax Working Group, D'Ambrosio AE, De Vico A, Guerrera F, Imbriglio G, Pardolesi A, Schiavon M, Russo E
Interact Cardiovasc Thorac Surg 2020 Mar 1;30(3):337-345. doi: 10.1093/icvts/ivz290. PMID: 31858124
Andres MP, Arcoverde FVL, Souza CCC, Fernandes LFC, Abrão MS, Kho RM
J Minim Invasive Gynecol 2020 Feb;27(2):373-389. Epub 2019 Oct 13 doi: 10.1016/j.jmig.2019.10.004. PMID: 31618674
Klingenberg C, Wheeler KI, McCallion N, Morley CJ, Davis PG
Cochrane Database Syst Rev 2017 Oct 17;10(10):CD003666. doi: 10.1002/14651858.CD003666.pub4. PMID: 29039883Free PMC Article
Roberts DJ, Leigh-Smith S, Faris PD, Blackmore C, Ball CG, Robertson HL, Dixon E, James MT, Kirkpatrick AW, Kortbeek JB, Stelfox HT
Ann Surg 2015 Jun;261(6):1068-78. doi: 10.1097/SLA.0000000000001073. PMID: 25563887

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