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Eosinophilic infiltration of the esophagus

MedGen UID:
1637185
Concept ID:
C4703646
Finding
Synonyms: Eosinophilic esophagitis; Eosinophilic infiltration of the oesophagus
 
HPO: HP:0410151

Definition

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEosinophilic infiltration of the esophagus

Conditions with this feature

Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
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.
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.
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
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 1
MedGen UID:
1646567
Concept ID:
C4551955
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.
Combined immunodeficiency due to DOCK8 deficiency
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.
Inflammatory bowel disease, immunodeficiency, and encephalopathy
MedGen UID:
1648434
Concept ID:
C4748708
Disease or Syndrome
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.

Professional guidelines

PubMed

Kinoshita Y, Oouchi S, Fujisawa T
Allergol Int 2019 Oct;68(4):420-429. Epub 2019 Apr 16 doi: 10.1016/j.alit.2019.03.003. PMID: 31000445
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775
Steinbach EC, Hernandez M, Dellon ES
J Allergy Clin Immunol Pract 2018 Sep-Oct;6(5):1483-1495. Epub 2018 Jul 3 doi: 10.1016/j.jaip.2018.06.012. PMID: 30201096Free PMC Article

Recent clinical studies

Etiology

Kaymak T, Kaya B, Wuggenig P, Nuciforo S, Göldi A; Swiss EoE Cohort Study Group (SEECS), Oswald F, Roux J, Noti M, Melhem H, Hruz P, Niess JH
Gut 2023 May;72(5):821-833. Epub 2022 May 25 doi: 10.1136/gutjnl-2022-327166. PMID: 35613844Free PMC Article
Licari A, Votto M, D'Auria E, Castagnoli R, Caimmi SME, Marseglia GL
Curr Pediatr Rev 2020;16(2):106-114. doi: 10.2174/1573396315666191022154432. PMID: 31642786
Hirano I, Dellon ES, Hamilton JD, Collins MH, Peterson K, Chehade M, Schoepfer AM, Safroneeva E, Rothenberg ME, Falk GW, Assouline-Dayan Y, Zhao Q, Chen Z, Swanson BN, Pirozzi G, Mannent L, Graham NMH, Akinlade B, Stahl N, Yancopoulos GD, Radin A
Gastroenterology 2020 Jan;158(1):111-122.e10. Epub 2019 Oct 5 doi: 10.1053/j.gastro.2019.09.042. PMID: 31593702
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775

Diagnosis

Licari A, Votto M, D'Auria E, Castagnoli R, Caimmi SME, Marseglia GL
Curr Pediatr Rev 2020;16(2):106-114. doi: 10.2174/1573396315666191022154432. PMID: 31642786
Kinoshita Y, Oouchi S, Fujisawa T
Allergol Int 2019 Oct;68(4):420-429. Epub 2019 Apr 16 doi: 10.1016/j.alit.2019.03.003. PMID: 31000445
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775
Steinbach EC, Hernandez M, Dellon ES
J Allergy Clin Immunol Pract 2018 Sep-Oct;6(5):1483-1495. Epub 2018 Jul 3 doi: 10.1016/j.jaip.2018.06.012. PMID: 30201096Free PMC Article

Therapy

Hirano I, Dellon ES, Hamilton JD, Collins MH, Peterson K, Chehade M, Schoepfer AM, Safroneeva E, Rothenberg ME, Falk GW, Assouline-Dayan Y, Zhao Q, Chen Z, Swanson BN, Pirozzi G, Mannent L, Graham NMH, Akinlade B, Stahl N, Yancopoulos GD, Radin A
Gastroenterology 2020 Jan;158(1):111-122.e10. Epub 2019 Oct 5 doi: 10.1053/j.gastro.2019.09.042. PMID: 31593702
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775
Steinbach EC, Hernandez M, Dellon ES
J Allergy Clin Immunol Pract 2018 Sep-Oct;6(5):1483-1495. Epub 2018 Jul 3 doi: 10.1016/j.jaip.2018.06.012. PMID: 30201096Free PMC Article
Fahey LM, Liacouras CA
Pediatr Clin North Am 2017 Jun;64(3):475-485. doi: 10.1016/j.pcl.2017.01.009. PMID: 28502433

Prognosis

Yalon M, Tahboub Amawi AD, Kelm ZS, Wells ML, Teo LLS, Heiken JP, Sheedy SP, Torbenson MS, Fidler JL, Venkatesh SK
Radiographics 2022 Jul-Aug;42(4):1081-1102. Epub 2022 Jun 24 doi: 10.1148/rg.220004. PMID: 35749291
Licari A, Votto M, D'Auria E, Castagnoli R, Caimmi SME, Marseglia GL
Curr Pediatr Rev 2020;16(2):106-114. doi: 10.2174/1573396315666191022154432. PMID: 31642786
Choudhury S, Baker S
Clin Rev Allergy Immunol 2020 Oct;59(2):150-159. doi: 10.1007/s12016-019-08749-6. PMID: 31175521
Munoz-Persy M, Lucendo AJ
Eur J Pediatr 2018 May;177(5):649-663. Epub 2018 Mar 17 doi: 10.1007/s00431-018-3129-7. PMID: 29549437
Virchow JC
Dig Dis 2014;32(1-2):54-60. Epub 2014 Feb 28 doi: 10.1159/000357010. PMID: 24603381

Clinical prediction guides

Kaymak T, Kaya B, Wuggenig P, Nuciforo S, Göldi A; Swiss EoE Cohort Study Group (SEECS), Oswald F, Roux J, Noti M, Melhem H, Hruz P, Niess JH
Gut 2023 May;72(5):821-833. Epub 2022 May 25 doi: 10.1136/gutjnl-2022-327166. PMID: 35613844Free PMC Article
Dellon ES
Dig Dis Sci 2020 Dec;65(12):3434-3447. Epub 2020 Oct 14 doi: 10.1007/s10620-020-06642-3. PMID: 33052498Free PMC Article
Hirano I, Dellon ES, Hamilton JD, Collins MH, Peterson K, Chehade M, Schoepfer AM, Safroneeva E, Rothenberg ME, Falk GW, Assouline-Dayan Y, Zhao Q, Chen Z, Swanson BN, Pirozzi G, Mannent L, Graham NMH, Akinlade B, Stahl N, Yancopoulos GD, Radin A
Gastroenterology 2020 Jan;158(1):111-122.e10. Epub 2019 Oct 5 doi: 10.1053/j.gastro.2019.09.042. PMID: 31593702
Munoz-Persy M, Lucendo AJ
Eur J Pediatr 2018 May;177(5):649-663. Epub 2018 Mar 17 doi: 10.1007/s00431-018-3129-7. PMID: 29549437
Virchow JC
Dig Dis 2014;32(1-2):54-60. Epub 2014 Feb 28 doi: 10.1159/000357010. PMID: 24603381

Recent systematic reviews

Reddy SB, Ketchem CJ, Dougherty MK, Eluri S, Dellon ES
Neurogastroenterol Motil 2023 Feb;35(2):e14475. Epub 2022 Sep 27 doi: 10.1111/nmo.14475. PMID: 36168184
Mobarki M, Dumollard JM, Dal Col P, Camy F, Peoc'h M, Karpathiou G
Pathol Res Pract 2020 Apr;216(4):152865. Epub 2020 Feb 12 doi: 10.1016/j.prp.2020.152865. PMID: 32089415
Moole H, Jacob K, Duvvuri A, Moole V, Dharmapuri S, Boddireddy R, Uppu A, Puli SR
Medicine (Baltimore) 2017 Apr;96(14):e5877. doi: 10.1097/MD.0000000000005877. PMID: 28383396Free PMC Article
Arias A, González-Cervera J, Tenias JM, Lucendo AJ
Gastroenterology 2014 Jun;146(7):1639-48. Epub 2014 Feb 15 doi: 10.1053/j.gastro.2014.02.006. PMID: 24534634
Bohm ME, Richter JE
Aliment Pharmacol Ther 2011 Apr;33(7):748-57. Epub 2011 Feb 14 doi: 10.1111/j.1365-2036.2011.04593.x. PMID: 21320137

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