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Esophageal stricture

MedGen UID:
1637009
Concept ID:
C4551650
Disease or Syndrome
Synonyms: Esophageal Stricture; Stricture, Esophageal
SNOMED CT: Stricture of esophagus (63305008); Esophageal stricture (63305008)
 
HPO: HP:0002043

Definition

A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. [from HPO]

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.
Dyskeratosis congenita, X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Dyskeratosis congenita, autosomal recessive 1
MedGen UID:
341705
Concept ID:
C1857144
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Dyskeratosis congenita, autosomal dominant 2
MedGen UID:
462793
Concept ID:
C3151443
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Dyskeratosis congenita, autosomal dominant 3
MedGen UID:
462795
Concept ID:
C3151445
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Combined immunodeficiency due to MALT1 deficiency
MedGen UID:
815913
Concept ID:
C3809583
Disease or Syndrome
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
Immunodeficiency 23
MedGen UID:
862808
Concept ID:
C4014371
Disease or Syndrome
IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
MedGen UID:
863424
Concept ID:
C4014987
Disease or Syndrome
A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed.
MIRAGE syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.
Visceral myopathy 2
MedGen UID:
1783630
Concept ID:
C5543466
Disease or Syndrome
Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).
Dyskeratosis congenita, autosomal recessive 8
MedGen UID:
1824030
Concept ID:
C5774257
Disease or Syndrome
Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1846538
Concept ID:
CN031130
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

Lee CJ, Dellon ES
Clin Gastroenterol Hepatol 2024 Feb;22(2):252-258. Epub 2023 Sep 3 doi: 10.1016/j.cgh.2023.08.015. PMID: 37660770
Kamran A, Smithers CJ, Izadi SN, Staffa SJ, Zurakowski D, Demehri FR, Mohammed S, Shieh HF, Ngo PD, Yasuda J, Manfredi MA, Hamilton TE, Jennings RW, Zendejas B
J Pediatr Surg 2023 Dec;58(12):2375-2383. Epub 2023 Jul 29 doi: 10.1016/j.jpedsurg.2023.07.014. PMID: 37598047
Yasuda JL, Manfredi MA
Gastrointest Endosc Clin N Am 2023 Apr;33(2):341-361. doi: 10.1016/j.giec.2022.11.005. PMID: 36948750

Recent clinical studies

Etiology

Zhang M, Ma J, Tian W, Zhao N, Feng X, Lu P, Ding Q, Liu M
BMC Gastroenterol 2024 Oct 10;24(1):360. doi: 10.1186/s12876-024-03448-9. PMID: 39390389Free PMC Article
Yan J, Yang Z, Gao L, He L, Chen M, Ding H, Shen R, Gong Y, Zhang G
Eur J Gastroenterol Hepatol 2023 Dec 1;35(12):1362-1369. Epub 2023 Oct 25 doi: 10.1097/MEG.0000000000002664. PMID: 37942757Free PMC Article
Sakaguchi Y, Tsuji Y, Sato J, Kubota D, Obata M, Cho R, Nagao S, Miura Y, Ohki D, Mizutani H, Yakabi S, Kakushima N, Niimi K, Fujishiro M
Surg Endosc 2023 Aug;37(8):6267-6277. Epub 2023 May 16 doi: 10.1007/s00464-023-10111-z. PMID: 37193890Free PMC Article

Diagnosis

Zhang M, Ma J, Tian W, Zhao N, Feng X, Lu P, Ding Q, Liu M
BMC Gastroenterol 2024 Oct 10;24(1):360. doi: 10.1186/s12876-024-03448-9. PMID: 39390389Free PMC Article
Sakaguchi Y, Tsuji Y, Sato J, Kubota D, Obata M, Cho R, Nagao S, Miura Y, Ohki D, Mizutani H, Yakabi S, Kakushima N, Niimi K, Fujishiro M
Surg Endosc 2023 Aug;37(8):6267-6277. Epub 2023 May 16 doi: 10.1007/s00464-023-10111-z. PMID: 37193890Free PMC Article

Therapy

Lee CJ, Dellon ES
Clin Gastroenterol Hepatol 2024 Feb;22(2):252-258. Epub 2023 Sep 3 doi: 10.1016/j.cgh.2023.08.015. PMID: 37660770
Kamran A, Smithers CJ, Izadi SN, Staffa SJ, Zurakowski D, Demehri FR, Mohammed S, Shieh HF, Ngo PD, Yasuda J, Manfredi MA, Hamilton TE, Jennings RW, Zendejas B
J Pediatr Surg 2023 Dec;58(12):2375-2383. Epub 2023 Jul 29 doi: 10.1016/j.jpedsurg.2023.07.014. PMID: 37598047
Sakaguchi Y, Tsuji Y, Sato J, Kubota D, Obata M, Cho R, Nagao S, Miura Y, Ohki D, Mizutani H, Yakabi S, Kakushima N, Niimi K, Fujishiro M
Surg Endosc 2023 Aug;37(8):6267-6277. Epub 2023 May 16 doi: 10.1007/s00464-023-10111-z. PMID: 37193890Free PMC Article
Patel RV, Hirano I, Gonsalves N
Annu Rev Med 2021 Jan 27;72:183-197. Epub 2020 Nov 23 doi: 10.1146/annurev-med-052819-023848. PMID: 33228437
Mboumi IW, Reddy S, Lidor AO
Surg Clin North Am 2019 Jun;99(3):501-510. doi: 10.1016/j.suc.2019.02.011. PMID: 31047038

Prognosis

Yan J, Yang Z, Gao L, He L, Chen M, Ding H, Shen R, Gong Y, Zhang G
Eur J Gastroenterol Hepatol 2023 Dec 1;35(12):1362-1369. Epub 2023 Oct 25 doi: 10.1097/MEG.0000000000002664. PMID: 37942757Free PMC Article
Sato H, Kobayashi T, Fujita N, Yamashita T, Kitadate A, Yoshioka T, Nara M, Kameoka Y, Miura M, Takahashi N
Cancer Chemother Pharmacol 2022 Sep;90(3):279-284. Epub 2022 Aug 13 doi: 10.1007/s00280-022-04460-0. PMID: 35962819
Uygun I, Bayram S
Esophagus 2020 Oct;17(4):365-375. Epub 2020 May 5 doi: 10.1007/s10388-020-00745-6. PMID: 32372308
Qiu Y, Shi R
Can J Gastroenterol Hepatol 2019;2019:5380815. Epub 2019 Apr 1 doi: 10.1155/2019/5380815. PMID: 31058109Free PMC Article
Hoang CD, Koh PS, Maddaus MA
Surg Clin North Am 2005 Jun;85(3):433-51. doi: 10.1016/j.suc.2005.01.019. PMID: 15927642

Clinical prediction guides

Lee CJ, Dellon ES
Clin Gastroenterol Hepatol 2024 Feb;22(2):252-258. Epub 2023 Sep 3 doi: 10.1016/j.cgh.2023.08.015. PMID: 37660770
Yan J, Yang Z, Gao L, He L, Chen M, Ding H, Shen R, Gong Y, Zhang G
Eur J Gastroenterol Hepatol 2023 Dec 1;35(12):1362-1369. Epub 2023 Oct 25 doi: 10.1097/MEG.0000000000002664. PMID: 37942757Free PMC Article
Wu R, Fu M, Tao HM, Dong T, Fan WT, Zhao LL, Fan ZN, Liu L
Sci Rep 2023 Jul 20;13(1):11769. doi: 10.1038/s41598-023-38575-y. PMID: 37474710Free PMC Article
Uygun I, Bayram S
Esophagus 2020 Oct;17(4):365-375. Epub 2020 May 5 doi: 10.1007/s10388-020-00745-6. PMID: 32372308
Shi KD, Ji F
World J Gastroenterol 2017 Feb 14;23(6):931-934. doi: 10.3748/wjg.v23.i6.931. PMID: 28246466Free PMC Article

Recent systematic reviews

Safarpour D, Jabbari B
Toxins (Basel) 2023 Dec 8;15(12) doi: 10.3390/toxins15120689. PMID: 38133193Free PMC Article
Nayar R, Varshney VK, Goel AD
J Gastrointest Surg 2022 Jan;26(1):224-234. Epub 2021 Sep 10 doi: 10.1007/s11605-021-05124-9. PMID: 34506024
Miyake H, Chen Y, Hock A, Seo S, Koike Y, Pierro A
Pediatr Surg Int 2018 May;34(5):491-497. Epub 2018 Mar 13 doi: 10.1007/s00383-018-4242-4. PMID: 29536176Free PMC Article
Oliveira JF, Moura EG, Bernardo WM, Ide E, Cheng S, Sulbaran M, Santos CM, Sakai P
Surg Endosc 2016 Jul;30(7):2779-91. Epub 2015 Oct 20 doi: 10.1007/s00464-015-4551-9. PMID: 26487197
Yu JP, Liu YJ, Tao YL, Ruan RW, Cui Z, Zhu SW, Shi W
World J Surg 2015 Dec;39(12):2955-64. doi: 10.1007/s00268-015-3193-3. PMID: 26335901

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