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Spontaneous esophageal perforation

MedGen UID:
65948
Concept ID:
C0238115
Disease or Syndrome
Synonyms: Boerhaave syndrome; Spontaneous perforation of the esophagus; Spontaneous rupture of esophagus; Spontaneous rupture of the esophagus
SNOMED CT: Spontaneous esophageal perforation (19995004); Spontaneous rupture of esophagus (19995004); Boerhaave's syndrome (19995004); Boerhaave syndrome (19995004); Spontaneous perforation of esophagus (19995004)
 
HPO: HP:0005203
Monarch Initiative: MONDO:0022013

Definition

The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBoerhaave syndrome

Conditions with this feature

Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Oculogastrointestinal muscular dystrophy
MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.

Professional guidelines

PubMed

Persson S, Rouvelas I, Irino T, Lundell L
Dis Esophagus 2017 Dec 1;30(12):1-10. doi: 10.1093/dote/dox108. PMID: 28881894
Freeman RK, Van Woerkom JM, Vyverberg A, Ascioti AJ
Ann Thorac Surg 2009 Jul;88(1):194-8. doi: 10.1016/j.athoracsur.2009.04.004. PMID: 19559223
Meyer GW, Castell DO
Am J Otolaryngol 1981 Nov;2(4):336-44. doi: 10.1016/s0196-0709(81)80043-9. PMID: 7034570

Recent clinical studies

Etiology

Chirica M, Bonavina L
Minerva Surg 2023 Feb;78(1):52-67. Epub 2022 Dec 13 doi: 10.23736/S2724-5691.22.09781-7. PMID: 36511315
Willems S, Daemen JHT, Hulsewé KWE, Belgers EHJ, Sosef MN, Soufidi K, Vissers YLJ, de Loos ER
Acta Chir Belg 2023 Aug;123(4):369-374. Epub 2022 Jan 19 doi: 10.1080/00015458.2022.2029035. PMID: 35020548
Elliott JA, Buckley L, Albagir M, Athanasiou A, Murphy TJ
Surg Endosc 2019 Oct;33(10):3494-3502. Epub 2019 May 29 doi: 10.1007/s00464-019-06863-2. PMID: 31144123
Glatz T, Marjanovic G, Kulemann B, Hipp J, Theodor Hopt U, Fischer A, Richter-Schrag HJ, Hoeppner J
Dis Esophagus 2017 Feb 1;30(3):1-6. doi: 10.1111/dote.12461. PMID: 27790804
Koivukangas V, Biancari F, Meriläinen S, Ala-Kokko T, Saarnio J
J Trauma Acute Care Surg 2012 Oct;73(4):1011-3. doi: 10.1097/TA.0b013e318265d176. PMID: 23026917

Diagnosis

Chirica M, Bonavina L
Minerva Surg 2023 Feb;78(1):52-67. Epub 2022 Dec 13 doi: 10.23736/S2724-5691.22.09781-7. PMID: 36511315
Jáquez-Quintana JO, Scharrer-Cabello S, Baeza-Zapata AA, Maldonado-Garza HJ, Sánchez-Otero MJ, Téllez-Hinojosa CA
Rev Esp Enferm Dig 2023 Jun;115(6):327-328. doi: 10.17235/reed.2022.9162/2022. PMID: 36093969
Elliott JA, Buckley L, Albagir M, Athanasiou A, Murphy TJ
Surg Endosc 2019 Oct;33(10):3494-3502. Epub 2019 May 29 doi: 10.1007/s00464-019-06863-2. PMID: 31144123
O'Neal JF
W V Med J 1994 Nov;90(11):475-6. PMID: 7825316
Meyer GW, Castell DO
Am J Otolaryngol 1981 Nov;2(4):336-44. doi: 10.1016/s0196-0709(81)80043-9. PMID: 7034570

Therapy

Jáquez-Quintana JO, Scharrer-Cabello S, Baeza-Zapata AA, Maldonado-Garza HJ, Sánchez-Otero MJ, Téllez-Hinojosa CA
Rev Esp Enferm Dig 2023 Jun;115(6):327-328. doi: 10.17235/reed.2022.9162/2022. PMID: 36093969
Elliott JA, Buckley L, Albagir M, Athanasiou A, Murphy TJ
Surg Endosc 2019 Oct;33(10):3494-3502. Epub 2019 May 29 doi: 10.1007/s00464-019-06863-2. PMID: 31144123
Arens A, Ben-Youssef L, Hayashi S, Smollin C
J Emerg Med 2016 Dec;51(6):e141-e143. Epub 2016 Sep 29 doi: 10.1016/j.jemermed.2016.05.061. PMID: 27693067
Naghibi K, Jalal HS
Acta Anaesthesiol Sin 2003 Mar;41(1):33-5. PMID: 12747345
Serna DL, Vovan TT, Roum JH, Brenner M, Chen JC
Crit Care Med 2000 Jul;28(7):2634-7. doi: 10.1097/00003246-200007000-00077. PMID: 10921608

Prognosis

Willems S, Daemen JHT, Hulsewé KWE, Belgers EHJ, Sosef MN, Soufidi K, Vissers YLJ, de Loos ER
Acta Chir Belg 2023 Aug;123(4):369-374. Epub 2022 Jan 19 doi: 10.1080/00015458.2022.2029035. PMID: 35020548
Elliott JA, Buckley L, Albagir M, Athanasiou A, Murphy TJ
Surg Endosc 2019 Oct;33(10):3494-3502. Epub 2019 May 29 doi: 10.1007/s00464-019-06863-2. PMID: 31144123
Glatz T, Marjanovic G, Kulemann B, Hipp J, Theodor Hopt U, Fischer A, Richter-Schrag HJ, Hoeppner J
Dis Esophagus 2017 Feb 1;30(3):1-6. doi: 10.1111/dote.12461. PMID: 27790804
Koivukangas V, Biancari F, Meriläinen S, Ala-Kokko T, Saarnio J
J Trauma Acute Care Surg 2012 Oct;73(4):1011-3. doi: 10.1097/TA.0b013e318265d176. PMID: 23026917
Freeman RK, Van Woerkom JM, Vyverberg A, Ascioti AJ
Ann Thorac Surg 2009 Jul;88(1):194-8. doi: 10.1016/j.athoracsur.2009.04.004. PMID: 19559223

Clinical prediction guides

Willems S, Daemen JHT, Hulsewé KWE, Belgers EHJ, Sosef MN, Soufidi K, Vissers YLJ, de Loos ER
Acta Chir Belg 2023 Aug;123(4):369-374. Epub 2022 Jan 19 doi: 10.1080/00015458.2022.2029035. PMID: 35020548
Petousis S, Margioula-Siarkou C, Lorenzi B, Charalabopoulos A, Sdralis EK
Acta Gastroenterol Belg 2020 Jan-Mar;83(1):11-14. PMID: 32233266
Elliott JA, Buckley L, Albagir M, Athanasiou A, Murphy TJ
Surg Endosc 2019 Oct;33(10):3494-3502. Epub 2019 May 29 doi: 10.1007/s00464-019-06863-2. PMID: 31144123

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