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Intestinal perforation

MedGen UID:
9525
Concept ID:
C0021845
Disease or Syndrome
Synonyms: Intestinal Perforation; Intestinal Perforations; Perforation, Intestinal; Perforations, Intestinal
SNOMED CT: Intestinal perforation (56905009); Perforation of intestine (56905009)
 
HPO: HP:0031368
Monarch Initiative: MONDO:0006807

Definition

A hole (perforation) in the wall of the intestine. [from HPO]

Conditions with this feature

Ehlers-Danlos syndrome, periodontal type 1
MedGen UID:
1642148
Concept ID:
C4551499
Disease or Syndrome
Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.
Mitochondrial DNA depletion syndrome 1
MedGen UID:
1631838
Concept ID:
C4551995
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1648470
Concept ID:
C4721531
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.

Professional guidelines

PubMed

Zhang B, Wu D, Liu M, Bai J, Chen F, Zhang R, Fang Y
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Leuk Lymphoma 2015;56(10):2779-86. Epub 2015 May 19 doi: 10.3109/10428194.2015.1022770. PMID: 25726955Free PMC Article

Recent clinical studies

Etiology

Barila P, Molino JA, Hidalgo E, Quintero J, Juampérez J, Mercadal-Hally M, Ortega J, Bilbao I, Charco R
Cir Pediatr 2023 Apr 1;36(2):73-77. doi: 10.54847/cp.2023.02.14. PMID: 37093116
Seguier-Lipszyc E, Samuk I, Almog A, Silbermintz A, Kravarusic D
J Paediatr Child Health 2022 Oct;58(10):1824-1828. Epub 2022 Jul 16 doi: 10.1111/jpc.16117. PMID: 35841278
Bence CM, Densmore JC
Clin Perinatol 2020 Mar;47(1):183-196. Epub 2019 Oct 17 doi: 10.1016/j.clp.2019.10.004. PMID: 32000925
Guerra F, Giuliani G, Coletta D, Bonapasta SA, Levi Sandri GB
Hepatobiliary Pancreat Dis Int 2017 Apr;16(2):160-163. doi: 10.1016/s1499-3872(16)60106-6. PMID: 28381379
Contini S
World J Gastroenterol 2017 Mar 21;23(11):1925-1931. doi: 10.3748/wjg.v23.i11.1925. PMID: 28373758Free PMC Article

Diagnosis

Shin D, Rahimi H, Haroon S, Merritt A, Vemula A, Noronha A, LeBedis CA
Radiol Clin North Am 2020 Jan;58(1):19-44. Epub 2019 Oct 21 doi: 10.1016/j.rcl.2019.08.004. PMID: 31731901
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AJR Am J Roentgenol 2013 Aug;201(2):W283-91. doi: 10.2214/AJR.12.9882. PMID: 23883242
Khan RA, Narasimhan KL
Ann Ital Chir 2012 Sep-Oct;83(5):437-9; discussion 439-40. PMID: 23064306
Tiwari A, Melegros L
Br J Hosp Med (Lond) 2007 Aug;68(8):429-33. doi: 10.12968/hmed.2007.68.8.24495. PMID: 17847692
Putcha RV, Burdick JS
Gastroenterol Clin North Am 2003 Dec;32(4):1289-309. doi: 10.1016/s0889-8553(03)00094-3. PMID: 14696308

Therapy

Rausch LA, Hanna DN, Patel A, Blakely ML
Clin Perinatol 2022 Dec;49(4):955-964. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.07.005. PMID: 36328610
Blakely ML, Tyson JE, Lally KP, Hintz SR, Eggleston B, Stevenson DK, Besner GE, Das A, Ohls RK, Truog WE, Nelin LD, Poindexter BB, Pedroza C, Walsh MC, Stoll BJ, Geller R, Kennedy KA, Dimmitt RA, Carlo WA, Cotten CM, Laptook AR, Van Meurs KP, Calkins KL, Sokol GM, Sanchez PJ, Wyckoff MH, Patel RM, Frantz ID 3rd, Shankaran S, D'Angio CT, Yoder BA, Bell EF, Watterberg KL, Martin CA, Harmon CM, Rice H, Kurkchubasche AG, Sylvester K, Dunn JCY, Markel TA, Diesen DL, Bhatia AM, Flake A, Chwals WJ, Brown R, Bass KD, St Peter SD, Shanti CM, Pegoli W Jr, Skarda D, Shilyansky J, Lemon DG, Mosquera RA, Peralta-Carcelen M, Goldstein RF, Vohr BR, Purdy IB, Hines AC, Maitre NL, Heyne RJ, DeMauro SB, McGowan EC, Yolton K, Kilbride HW, Natarajan G, Yost K, Winter S, Colaizy TT, Laughon MM, Lakshminrusimha S, Higgins RD; Eunice Kennedy Shriver National Institute of Child Health, Human Development Neonatal Research Network
Ann Surg 2021 Oct 1;274(4):e370-e380. doi: 10.1097/SLA.0000000000005099. PMID: 34506326Free PMC Article
Azhar N, Johanssen A, Sundström T, Folkesson J, Wallon C, Kørner H, Blecic L, Forsmo HM, Øresland T, Yaqub S, Buchwald P, Schultz JK; SCANDIV Study Group
JAMA Surg 2021 Feb 1;156(2):121-127. doi: 10.1001/jamasurg.2020.5618. PMID: 33355658Free PMC Article
Aguilar-Guisado M, Espigado I, Martín-Peña A, Gudiol C, Royo-Cebrecos C, Falantes J, Vázquez-López L, Montero MI, Rosso-Fernández C, de la Luz Martino M, Parody R, González-Campos J, Garzón-López S, Calderón-Cabrera C, Barba P, Rodríguez N, Rovira M, Montero-Mateos E, Carratalá J, Pérez-Simón JA, Cisneros JM
Lancet Haematol 2017 Dec;4(12):e573-e583. Epub 2017 Nov 15 doi: 10.1016/S2352-3026(17)30211-9. PMID: 29153975
Narum S, Westergren T, Klemp M
BMJ Open 2014 May 15;4(5):e004587. doi: 10.1136/bmjopen-2013-004587. PMID: 24833682Free PMC Article

Prognosis

Eng C, Kim TW, Bendell J, Argilés G, Tebbutt NC, Di Bartolomeo M, Falcone A, Fakih M, Kozloff M, Segal NH, Sobrero A, Yan Y, Chang I, Uyei A, Roberts L, Ciardiello F; IMblaze370 Investigators
Lancet Oncol 2019 Jun;20(6):849-861. Epub 2019 Apr 16 doi: 10.1016/S1470-2045(19)30027-0. PMID: 31003911
Kim SY, Kim HS, Park HJ
World J Gastroenterol 2019 Jan 14;25(2):190-204. doi: 10.3748/wjg.v25.i2.190. PMID: 30670909Free PMC Article
Karila K, Anttila A, Iber T, Pakarinen M, Koivusalo A
J Pediatr Surg 2019 Mar;54(3):460-464. Epub 2018 Oct 23 doi: 10.1016/j.jpedsurg.2018.10.043. PMID: 30413273
Shah J, Singhal N, da Silva O, Rouvinez-Bouali N, Seshia M, Lee SK, Shah PS; Canadian Neonatal Network
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Sliesoraitis S, Tawfik B
J Am Osteopath Assoc 2011 Jul;111(7):437-41. PMID: 21803880

Clinical prediction guides

Vaidya R, Yi JX, O'Shea TM, Jensen ET, Joseph RM, Shenberger J, Gogcu S, Wagner K, Msall ME, Thompson AL, Frazier JA, Fry R, Singh R; ELGAN-ECHO Study Investigators
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Berrington J, Embleton ND
Arch Dis Child Fetal Neonatal Ed 2022 May;107(3):336-339. Epub 2021 Jul 13 doi: 10.1136/archdischild-2020-321429. PMID: 34257102
Nascimbeni R, Amato A, Cirocchi R, Serventi A, Laghi A, Bellini M, Tellan G, Zago M, Scarpignato C, Binda GA
Tech Coloproctol 2021 Feb;25(2):153-165. Epub 2020 Nov 5 doi: 10.1007/s10151-020-02346-y. PMID: 33155148Free PMC Article
Contini S
World J Gastroenterol 2017 Mar 21;23(11):1925-1931. doi: 10.3748/wjg.v23.i11.1925. PMID: 28373758Free PMC Article
Paixão TS, Leão RV, de Souza Maciel Rocha Horvat N, Viana PC, Da Costa Leite C, de Azambuja RL, Damasceno RS, Ortega CD, de Menezes MR, Cerri GG
Abdom Radiol (NY) 2017 Apr;42(4):1087-1095. doi: 10.1007/s00261-016-0939-9. PMID: 27717979

Recent systematic reviews

D'Ambrosio F, Pappalardo C, Scardigno A, Maida A, Ricciardi R, Calabrò GE
Int J Environ Res Public Health 2022 Dec 21;20(1) doi: 10.3390/ijerph20010079. PMID: 36612395Free PMC Article
Gachabayov M, Essani R, Bergamaschi R
Langenbecks Arch Surg 2018 Feb;403(1):11-22. Epub 2017 Sep 5 doi: 10.1007/s00423-017-1621-6. PMID: 28875302
Samuels N, van de Graaf RA, de Jonge RCJ, Reiss IKM, Vermeulen MJ
BMC Pediatr 2017 Apr 14;17(1):105. doi: 10.1186/s12887-017-0847-3. PMID: 28410573Free PMC Article
Narum S, Westergren T, Klemp M
BMJ Open 2014 May 15;4(5):e004587. doi: 10.1136/bmjopen-2013-004587. PMID: 24833682Free PMC Article
Humes D, Speake WJ, Simpson J
BMJ Clin Evid 2007 Jul 1;2007 PMID: 19454096Free PMC Article

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