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<!--
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UID=1637009
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ConceptID=C4551650
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Esophageal stricture</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Esophageal Stricture; Stricture, Esophageal</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Stricture of esophagus (63305008); Esophageal stricture (63305008)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002043">HP:0002043</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Esophageal stricture</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/927600" ref="tree=MeSH" title="MedGen record for Abnormal digestive system morphology">Abnormal digestive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866726" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal tract morphology">Abnormal gastrointestinal tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/539700" ref="tree=MeSH" title="MedGen record for Abnormal esophagus morphology">Abnormal esophagus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/5026" ref="tree=MeSH" title="MedGen record for Esophageal stenosis">Esophageal stenosis</a></span><ul><li><span class="matched_ds">Esophageal stricture</span><ul><li><span class="TLline"><a href="/medgen/574494" ref="tree=MeSH" title="MedGen record for Esophageal anastomotic stricture">Esophageal anastomotic stricture</a></span><ul><li><span class="TLline"><a href="/medgen/1768449" ref="tree=MeSH" title="MedGen record for Recurrent Esophageal Anastomotic Stricture">Recurrent Esophageal Anastomotic Stricture</a></span></li><li><span class="TLline"><a href="/medgen/1760090" ref="tree=MeSH" title="MedGen record for Refractory Esophageal Anastomotic Stricture">Refractory Esophageal Anastomotic Stricture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137950" ref="tree=MeSH" title="MedGen record for Stricture of esophagus caused by radiation">Stricture of esophagus caused by radiation</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_36311"><div><strong>Recessive dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36311</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0079474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_216941"><div><strong>Dyskeratosis congenita, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>216941</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1148551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/216941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341705"><div><strong>Dyskeratosis congenita, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_445391"><div><strong>Hyper-IgE recurrent infection syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445391</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2936739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/445391">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462793"><div><strong>Dyskeratosis congenita, autosomal dominant 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462793">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815913"><div><strong>Combined immunodeficiency due to MALT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815913</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862808"><div><strong>Immunodeficiency 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862808</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862808">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863424"><div><strong>Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863424</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863424">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1783630"><div><strong>Visceral myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1783630</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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)).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1783630">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824030"><div><strong>Dyskeratosis congenita, autosomal recessive 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824030</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824030">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to MALT1 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 8</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_216941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_445391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recessive dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1783630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visceral myopathy 2</a></div></span></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660770">Real-World Efficacy of Dupilumab in Severe, Treatment-Refractory, and Fibrostenotic Patients With Eosinophilic Esophagitis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CJ,
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||
Dellon ES</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
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||
2024 Feb;22(2):252-258.
|
||
Epub 2023 Sep 3
|
||
doi: 10.1016/j.cgh.2023.08.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660770" target="_blank">37660770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34723875">Treatment of esophageal stricture due to lichen planus with intralesional triamcinolone injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acar S,
|
||
Koksal AS,
|
||
Tozlu M,
|
||
Gonullu E,
|
||
Eminler AT</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2021 Dec 1;33(12):1611.
|
||
doi: 10.1097/MEG.0000000000002235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34723875" target="_blank">34723875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6351299">Management of the patient with benign esophageal stricture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henderson RD</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1983 Aug;63(4):885-903.
|
||
doi: 10.1016/s0039-6109(16)43090-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6351299" target="_blank">6351299</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22esophageal%20stricture%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (132)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38374546">Complex Esophageal Stricture Managed with Balloon Dilation and Fully-Covered Metal Stent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoskins B,
|
||
Ng K</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2024 Feb;78(2):446-447.
|
||
Epub 2023 Sep 8
|
||
doi: 10.1097/MPG.0000000000003940.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38374546" target="_blank">38374546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29129295">Future Directions in Eosinophilic Esophagitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirano I</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
|
||
2018 Jan;28(1):111-122.
|
||
Epub 2017 Oct 12
|
||
doi: 10.1016/j.giec.2017.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29129295" target="_blank">29129295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28780072">Presentation and Epidemiology of Gastroesophageal Reflux Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richter JE,
|
||
Rubenstein JH</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2018 Jan;154(2):267-276.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1053/j.gastro.2017.07.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28780072" target="_blank">28780072</a><a href="/pmc/articles/PMC5797499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26616899">Button Battery Ingestion in Children: A Paradigm for Management of Severe Pediatric Foreign Body Ingestions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leinwand K,
|
||
Brumbaugh DE,
|
||
Kramer RE</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
|
||
2016 Jan;26(1):99-118.
|
||
doi: 10.1016/j.giec.2015.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26616899" target="_blank">26616899</a><a href="/pmc/articles/PMC5425245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15152957">Barrett's esophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shalauta MD,
|
||
Saad R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 May 1;69(9):2113-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15152957" target="_blank">15152957</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (774)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34688705">Dysphagia in Multiple Endocrine Neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim GE,
|
||
Alpert L,
|
||
Siddiqui UD</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Jun;162(7):e1-e2.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1053/j.gastro.2021.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34688705" target="_blank">34688705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34599579">Erythema multiforme in the esophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandewalle J,
|
||
Van Eyken P,
|
||
Struyve M</span><br />
|
||
<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
|
||
2021 Jul-Sep;84(3):513-515.
|
||
doi: 10.51821/84.3.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34599579" target="_blank">34599579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29129295">Future Directions in Eosinophilic Esophagitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirano I</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
|
||
2018 Jan;28(1):111-122.
|
||
Epub 2017 Oct 12
|
||
doi: 10.1016/j.giec.2017.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29129295" target="_blank">29129295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28780072">Presentation and Epidemiology of Gastroesophageal Reflux Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richter JE,
|
||
Rubenstein JH</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2018 Jan;154(2):267-276.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1053/j.gastro.2017.07.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28780072" target="_blank">28780072</a><a href="/pmc/articles/PMC5797499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15152957">Barrett's esophagus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shalauta MD,
|
||
Saad R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 May 1;69(9):2113-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15152957" target="_blank">15152957</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (508)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34688707">Esophageal Stricture: Not Your Usual Culprit?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed Z,
|
||
Schwartz MR,
|
||
Quigley EMM</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Feb;162(2):399-400.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1053/j.gastro.2021.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34688707" target="_blank">34688707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31047038">Complications After Esophagectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mboumi IW,
|
||
Reddy S,
|
||
Lidor AO</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2019 Jun;99(3):501-510.
|
||
doi: 10.1016/j.suc.2019.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31047038" target="_blank">31047038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30693566">Gastrointestinal: Esophageal stricture with esophageal intramural pseudodiverticulosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinugasa H,
|
||
Okamoto Y,
|
||
Nakagawa M</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2019 Jul;34(7):1130.
|
||
Epub 2019 Jan 28
|
||
doi: 10.1111/jgh.14597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30693566" target="_blank">30693566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30589460">Radial incision and cutting for refractory benign esophageal stricture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mizusawa T,
|
||
Kobayashi M,
|
||
Terai S</span><br />
|
||
<span class="medgenPMjournal">Dig Endosc</span>
|
||
2019 Mar;31(2):e46-e47.
|
||
Epub 2019 Jan 27
|
||
doi: 10.1111/den.13329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30589460" target="_blank">30589460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3363126">Esophageal strictures: balloon dilation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maynar M,
|
||
Guerra C,
|
||
Reyes R,
|
||
Mayor J,
|
||
Garcia J,
|
||
Facal P,
|
||
Castaneda-Zuniga WR,
|
||
Letourneau JG</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1988 Jun;167(3):703-6.
|
||
doi: 10.1148/radiology.167.3.3363126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3363126" target="_blank">3363126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (684)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35962819">Safe administration and pharmacokinetic monitoring of crushed venetoclax tablets with posaconazole and clarithromycin via percutaneous endoscopic gastrostomy tube in a patient with acute myeloid leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sato H,
|
||
Kobayashi T,
|
||
Fujita N,
|
||
Yamashita T,
|
||
Kitadate A,
|
||
Yoshioka T,
|
||
Nara M,
|
||
Kameoka Y,
|
||
Miura M,
|
||
Takahashi N</span><br />
|
||
<span class="medgenPMjournal">Cancer Chemother Pharmacol</span>
|
||
2022 Sep;90(3):279-284.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1007/s00280-022-04460-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35962819" target="_blank">35962819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32372308">Corrosive ingestion managements in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uygun I,
|
||
Bayram S</span><br />
|
||
<span class="medgenPMjournal">Esophagus</span>
|
||
2020 Oct;17(4):365-375.
|
||
Epub 2020 May 5
|
||
doi: 10.1007/s10388-020-00745-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32372308" target="_blank">32372308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30589460">Radial incision and cutting for refractory benign esophageal stricture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mizusawa T,
|
||
Kobayashi M,
|
||
Terai S</span><br />
|
||
<span class="medgenPMjournal">Dig Endosc</span>
|
||
2019 Mar;31(2):e46-e47.
|
||
Epub 2019 Jan 27
|
||
doi: 10.1111/den.13329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30589460" target="_blank">30589460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10192618">Esophageal stricture from idiopathic ulcers in an AIDS patient: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borum ML,
|
||
Marks ZH</span><br />
|
||
<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
||
1999 Apr;28(3):260-1.
|
||
doi: 10.1097/00004836-199904000-00018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10192618" target="_blank">10192618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9101133">Esophageal intramural pseudodiverticulosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flora KD,
|
||
Gordon MD,
|
||
Lieberman D,
|
||
Schmidt W</span><br />
|
||
<span class="medgenPMjournal">Dig Dis</span>
|
||
1997 Jan-Apr;15(1-2):113-9.
|
||
doi: 10.1159/000171591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9101133" target="_blank">9101133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (433)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660770">Real-World Efficacy of Dupilumab in Severe, Treatment-Refractory, and Fibrostenotic Patients With Eosinophilic Esophagitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CJ,
|
||
Dellon ES</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2024 Feb;22(2):252-258.
|
||
Epub 2023 Sep 3
|
||
doi: 10.1016/j.cgh.2023.08.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660770" target="_blank">37660770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37474710">Benign esophageal stricture model construction and mechanism exploration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu R,
|
||
Fu M,
|
||
Tao HM,
|
||
Dong T,
|
||
Fan WT,
|
||
Zhao LL,
|
||
Fan ZN,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 20;13(1):11769.
|
||
doi: 10.1038/s41598-023-38575-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37474710" target="_blank">37474710</a><a href="/pmc/articles/PMC10359281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32676843">Antireflux Mucosectomy Band (ARM-b) in Treatment of Refractory Gastroesophageal Reflux Disease After Bariatric Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debourdeau A,
|
||
Vitton V,
|
||
Monino L,
|
||
Barthet M,
|
||
Gonzalez JM</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2020 Nov;30(11):4654-4658.
|
||
Epub 2020 Jul 16
|
||
doi: 10.1007/s11695-020-04753-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32676843" target="_blank">32676843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32372308">Corrosive ingestion managements in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uygun I,
|
||
Bayram S</span><br />
|
||
<span class="medgenPMjournal">Esophagus</span>
|
||
2020 Oct;17(4):365-375.
|
||
Epub 2020 May 5
|
||
doi: 10.1007/s10388-020-00745-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32372308" target="_blank">32372308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30472230">How to Approach a Patient With Refractory or Recurrent Benign Esophageal Stricture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siersema PD</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Jan;156(1):7-10.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1053/j.gastro.2018.11.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30472230" target="_blank">30472230</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (311)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38133193">Botulinum Toxin Treatment for Cancer-Related Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Safarpour D,
|
||
Jabbari B</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2023 Dec 8;15(12)
|
||
doi: 10.3390/toxins15120689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38133193" target="_blank">38133193</a><a href="/pmc/articles/PMC10748363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34506024">Outcomes of Gastric Conduit in Corrosive Esophageal Stricture: a Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayar R,
|
||
Varshney VK,
|
||
Goel AD</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Surg</span>
|
||
2022 Jan;26(1):224-234.
|
||
Epub 2021 Sep 10
|
||
doi: 10.1007/s11605-021-05124-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34506024" target="_blank">34506024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29216023">Corticosteroids for Preventing Caustic Esophageal Strictures: Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katibe R,
|
||
Abdelgadir I,
|
||
McGrogan P,
|
||
Akobeng AK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2018 Jun;66(6):898-902.
|
||
doi: 10.1097/MPG.0000000000001852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29216023" target="_blank">29216023</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26487197">Prevention of esophageal stricture after endoscopic submucosal dissection: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira JF,
|
||
Moura EG,
|
||
Bernardo WM,
|
||
Ide E,
|
||
Cheng S,
|
||
Sulbaran M,
|
||
Santos CM,
|
||
Sakai P</span><br />
|
||
<span class="medgenPMjournal">Surg Endosc</span>
|
||
2016 Jul;30(7):2779-91.
|
||
Epub 2015 Oct 20
|
||
doi: 10.1007/s00464-015-4551-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26487197" target="_blank">26487197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26335901">Prevention of Esophageal Stricture After Endoscopic Submucosal Dissection: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu JP,
|
||
Liu YJ,
|
||
Tao YL,
|
||
Ruan RW,
|
||
Cui Z,
|
||
Zhu SW,
|
||
Shi W</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
2015 Dec;39(12):2955-64.
|
||
doi: 10.1007/s00268-015-3193-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26335901" target="_blank">26335901</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20stricture%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (25)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22esophageal%20stricture%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Esophageal%20stricture%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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