A Doença Inflamatória da Pele e do Intestino em Recém-Nascidos é uma síndrome rara, grave e que pode colocar a vida em risco. É uma condição autoinflamatória (onde o próprio sistema de defesa do corpo ataca a si mesmo, causando inflamação) e também envolve uma deficiência imunológica. Ela se caracteriza por inflamação que começa cedo e dura a vida toda, afetando a pele e o intestino, e está ligada a infecções de repetição. Os pacientes apresentam, ao redor da boca e do ânus, vermelhidão na pele parecida com a psoríase, pequenas elevações e bolhas com pus. Também há dificuldade para crescer e ganhar peso de forma adequada, associada a diarreia crônica (duradoura) que impede a absorção de nutrientes, infecções frequentes no trato gastrointestinal (estômago e intestino) e problemas para se alimentar. Além disso, podem ter cabelos ausentes, curtos ou quebradiços, e cílios e sobrancelhas muito longos. Infecções repetidas na pele e nos pulmões levam ao surgimento frequente de blefarite (inflamação das pálpebras), otite externa (infecção no ouvido externo) e bronquiolite (inflamação das vias aéreas pequenas dos pulmões).
Introdução
O que você precisa saber de cara
A Doença Inflamatória da Pele e do Intestino em Recém-Nascidos é uma síndrome rara, grave e que pode colocar a vida em risco. É uma condição autoinflamatória (onde o próprio sistema de defesa do corpo ataca a si mesmo, causando inflamação) e também envolve uma deficiência imunológica. Ela se caracteriza por inflamação que começa cedo e dura a vida toda, afetando a pele e o intestino, e está ligada a infecções de repetição. Os pacientes apresentam, ao redor da boca e do ânus, vermelhidão na pele parecida com a psoríase, pequenas elevações e bolhas com pus. Também há dificuldade para crescer e ganhar peso de forma adequada, associada a diarreia crônica (duradoura) que impede a absorção de nutrientes, infecções frequentes no trato gastrointestinal (estômago e intestino) e problemas para se alimentar. Além disso, podem ter cabelos ausentes, curtos ou quebradiços, e cílios e sobrancelhas muito longos. Infecções repetidas na pele e nos pulmões levam ao surgimento frequente de blefarite (inflamação das pálpebras), otite externa (infecção no ouvido externo) e bronquiolite (inflamação das vias aéreas pequenas dos pulmões).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity (PubMed:24226769, PubMed:24227843, PubMed:28060820, PubMed:28923481). Cleaves the membrane-bound precursor of TNF to its mature soluble form (PubMed:36078095, PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). R
Cell membrane
Inflammatory skin and bowel disease, neonatal, 1
A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized.
Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:12297049, PubMed:15611079, PubMed:17909029, PubMed:20837704, PubMed:27153536, PubMed:2790960, PubMed:7679104, PubMed:8144591, PubM
Cell membraneEndoplasmic reticulum membraneGolgi apparatus membraneNucleus membraneEndosomeEndosome membraneNucleusSecreted
Lung cancer
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
Variantes genéticas (ClinVar)
294 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
42 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença inflamatória do intestino e da pele neonatal
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.
Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.
To evaluate the impact of the timing from the last dose of dexamethasone to delivery, different steroid courses, and the number of fetuses (singleton vs twin) on preterm neonatal outcomes. This study focused on respiratory complications and associated conditions. A retrospective analysis was conducted on 1800 pregnancies, comprising 1585 singleton pregnancies and 215 twin pregnancies, resulting in a total of 2015 neonates. The timing of dexamethasone administration relative to delivery was categorized into intervals: less than 6 hours, between 2 and 7 days, between 8 and 13 days, and 14 days or more. Neonatal outcomes, including respiratory distress syndrome (RDS), continuous positive airway pressure (CPAP) support, bronchopulmonary dysplasia (BPD), pneumothorax, and necrotizing enterocolitis (NEC), were analyzed. Multivariate logistic regression assessed the adjusted odds ratios (AORs) for these outcomes based on timing, steroid course (complete vs partial), and number of fetuses. Neonates exposed to dexamethasone between 2 and 7 days before delivery showed a reduced need for CPAP support (AOR: 0.65; 95% CI: 0.48-0.88). This group was compared to those exposed for less than 6 hours or more than 14 days before delivery. However, the incidence of RDS did not significantly decrease with the timing of dexamethasone administration. A higher incidence of pneumothorax was observed in neonates born less than 6 hours after an incomplete course (AOR: 1.89; 95% CI: 1.01-3.54). Twin pregnancies delivered within 12 hours of a complete course were at increased risk for NEC (AOR: 2.11; 95% CI: 1.07-4.16). Deliveries occurring more than 14 days after the last dose were associated with increased risks of ventilator support (AOR: 2.11; 95% CI: 1.08-4.11) and BPD. This was particularly evident in cases where multiple courses were administered. The timing of the last dexamethasone dose is crucial for reducing respiratory complications other than RDS. The optimal window is between 2 and 7 days before delivery. This effect is influenced by the completeness of the steroid course and the number of fetuses. Tailoring dexamethasone administration according to these factors can significantly improve outcomes in preterm neonates, particularly in reducing the severity of respiratory complications. TCTR20230724002 (Registration date: 24 July 2023) http://thaiclinicaltrials.org/export/pdf/TCTR20230724002.
Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia. It is often associated with short stature, metaphyseal abnormalities, hair hypoplasia and immune dysfunction. This case describes a pregnant woman in her mid-30s with two previous children diagnosed with CHH with molecular confirmation of two pathogenic variants of the ribonuclease mitochondrial RNA processing gene. The couple is healthy and non-consanguineous. Routine ultrasound examination of the current pregnancy suggested this fetus was also likely to be affected. The couple opted not to perform invasive prenatal diagnosis. Umbilical cord blood was collected at birth for genetic testing, confirming the diagnosis. CHH has a significant impact on the quality of life of those affected. Genetic counselling may help parents understand the disease and its prognosis. Obstetric ultrasound plays an important role in the diagnosis by allowing early detection of suspected cases as well as assessing fetal growth.
A Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.
Diarrhea-predominant irritable bowel syndrome (IBS-D) is a common chronic disorder of gut-brain interaction characterized by intestinal dysmotility. Central sensitization has a proposed role in intestinal dysmotility, yet the precise neural circuits and mechanisms remain poorly understood. In this study, we established a neonatal maternal deprivation plus restraint stress (NMD + RS) mouse model that recapitulates key diarrhea-like phenotypes. Neural activation mapping revealed a significant upregulation of c-Fos expression within the medial prefrontal cortex (mPFC) and locus coeruleus (LC), which was predominantly localized to glutamatergic neurons. Chemogenetic inhibition of mPFC glutamatergic neurons suppressed intestinal dysmotility, whereas the activation of mPFC glutamatergic neurons evoked intestinal dysmotility in control mice. Furthermore, viral tracing revealed direct projections from mPFC neurons to glutamatergic neurons in the LC. Subsequent chemogenetic manipulation of these LC glutamatergic neurons receiving projection from mPFC neurons similarly regulated intestinal motility, demonstrating a functional downstream node. Critically, selective activation of the mPFC-LC glutamatergic circuit significantly induced intestinal dysmotility in CON mice. In contrast, inhibition of the mPFC-LC glutamatergic circuit significantly ameliorated intestinal dysmotility in NMD + RS mice. Our findings proved that the enhanced activity of the mPFC-LC circuit led to intestinal dysmotility in NMD + RS mice, hopefully providing new mechanistic perspectives and a potential neuromodulatory target for clinical management of IBS.
Cluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.
The Improvement of Neonatal Intensive Care Unit (NICU) Practices and Team Approach Cluster-randomized Controlled Trial (INTACT) tested a multidisciplinary quality improvement (QI) program but did not show improved survival without neurodevelopmental impairment at 3 years among infants with very low birthweight. However, the program's potential effect on acute-phase outcomes in extremely preterm infants (< 28 weeks of gestation) warrants further evaluation. This secondary analysis aimed to assess the effect of the INTACT study's QI intervention based on participatory learning and action on acute morbidities during the NICU stay and outcomes at 3 years of age. We performed a secondary analysis of data from the INTACT trial, a cluster-randomized controlled trial conducted in 40 Japanese NICUs from 2012-2014. Infants were stratified into two gestational age groups (22-24 weeks and 25-27 weeks). The primary outcome was a composite of seven acute morbidities (pulmonary air leak syndrome, pulmonary hemorrhage, sepsis, severe intraventricular hemorrhage, intestinal perforation, necrotizing enterocolitis, or circulatory collapse) between the intervention (QI program) and control groups. Secondary outcomes included chronic morbidities diagnosed before NICU discharge and long-term outcomes at 3 years of age. Multivariable logistic regression and Holm's correction for multiple comparisons were applied. In the 25-27-week subgroup, the intervention group showed a significantly lower rate of composite acute morbidity than the control group (31.3% vs. 40.3%; adjusted odds ratio [OR] 0.67; 95% confidence interval 0.50-0.90; p = 0.008). In the 22-24-week subgroup, composite acute morbidity did not differ significantly; however, sepsis (adjusted OR: 0.44, Holm-adjusted p = 0.010) and pulmonary hemorrhage (adjusted OR: 0.27, Holm-adjusted p = 0.028) were significantly reduced. After multivariable adjustment and Holm correction, no differences in neurodevelopmental outcomes at 3 years of age were observed between groups. This secondary analysis of a cluster-randomized controlled trial demonstrated that the intervention group receiving a NICU-specific QI program had reduced acute-phase morbidities, particularly among infants born between 22 and 27 weeks of gestation. Our findings highlight the potential for widespread clinical implementation of QI programs based on participatory learning and action in neonatal intensive care.
Publicações recentes
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.
A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
📚 EuropePMCmostrando 198
Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceDifficulties in diagnosing a pediatric patient with small intestinal bacterial overgrowth.
Einstein (Sao Paulo, Brazil)Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.
PloS oneHippocampal Neuronal Ferroptosis Driven by Lipocalin-2 Mediates Comorbid Visceral Pain and Anxiety in Irritable Bowel Syndrome.
Molecular neurobiologyFamilial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
BMJ case reportsNeonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical geneticsA Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.
International journal of molecular sciencesImaging of megacystis-microcolon-intestinal hypoperistalsis syndrome before, during, and after the neonatal period: a pictorial review.
Pediatric radiologyIs trisomy 21 a risk factor for postoperative complications after pediatric surgery for neonatal gastrointestinal disease? A retrospective study using a National Clinical Database in Japan.
Pediatric surgery internationalCongenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review.
Journal of pediatric surgeryCluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.
BMC pediatricsPrevalence, risk factors and mortality associated with colonic atresia: a population-based case-control study.
Pediatric surgery internationalFood Protein-Induced Enterocolitis Syndrome Masquerading as Sepsis in Early Infancy.
Rhode Island medical journal (2013)Comparisons of fecal microbiota and cytokines in preterm infants preceding necrotizing enterocolitis and feeding intolerance: An observational study.
MedicineSARS-CoV-2 infection during pregnancy and necrotizing enterocolitis: case report and review of the literature.
Italian journal of pediatricsEpidemiological Characteristics of Pediatric Patients with Intestinal Failure in Spain: Data from the REPAFI Registry.
NutrientsOmphalocele and patent omphalomesenteric duct with ileal prolapse in a syndromic baby: A case report and review of the literature.
International journal of surgery case reports[Benefits and risks of antenatal corticosteroids].
Gynecologie, obstetrique, fertilite & senologieA rare cause of a rare entity - Milk curd syndrome: A case series and review of literature.
Tropical doctorPredictive value of biomarkers in neonatal necrotizing enterocolitis.
Frontiers in pediatricsNeonatal duodenal atresia with heterotopic pancreas: a case report and literature review.
Frontiers in pediatricsMicrobiota decolonization of bacterial pathogens in pediatric surgery-related intestinal disorders: Insights on current strategies and future outlook.
World journal of clinical pediatricsHirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Clinical geneticsDevelopment and validation of a nomogram for predicting necrotizing enterocolitis in premature infants with early-onset sepsis.
Scientific reportsJapanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.
International journal of clinical oncologyDiffuse pneumatosis intestinalis caused by food protein-induced enterocolitis-a case report.
AME case reportsEstablishing and validating syndromic surveillance of gastrointestinal infections using routine emergency department data, Germany, 2019-2023.
Scientific reportsSmooth muscle cell (SMC)-Specific SNRK deletion in mouse causes congenital short bowel syndrome and premature death.
Biochemistry and biophysics reportsEffectiveness of Antenatal Corticosteroids in reducing morbidities and mortality in Preterm neonates: Evidence from a Tertiary Level Hospital in Nepal.
PloS oneNecrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?
Journal of clinical medicineEffect of thoracic squeeze technique and Yakson technique in preterm infants having respiratory distress syndrome along with spontaneous intestinal perforation.
BMJ case reportsA Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.
Molecular genetics & genomic medicineDoes colostrum play a role in intestinal adaptation? A systematic review of literature.
La Pediatria medica e chirurgica : Medical and surgical pediatricsThe relationship among NICU stressors and irritable bowel syndrome in parents during their infant stay: the mediating role of anxiety.
Italian journal of pediatricsOutcome trends in preterm infants with incomplete antenatal corticosteroid cycles: Is 6 h enough?
European journal of obstetrics, gynecology, and reproductive biologyAbdominal compartment syndrome in the pediatric population - Case series and review of the literature.
The American journal of emergency medicineDo functional gut parameters predict enteral autonomy and chronic cholestasis in pediatric intestinal failure?
Clinical nutrition (Edinburgh, Scotland)Concurrent congenital diaphragmatic hernia and Hirschsprung's disease: a diagnostic dilemma with therapeutic implications-a case report and literature review.
Journal of surgical case reportsPhenotypes and follow-up of chronic cow's milk food protein-induced enterocolitis syndrome: A 16-year prospective observational study.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyMeconium-related obstruction: Contemporary experience in a multi-institutional consortium.
Journal of pediatric surgeryIntestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.
American journal of medical genetics. Part AEnhancing pediatric practice: A comprehensive review on malabsorption in pediatrics for diagnostic and management approach.
Nutrition (Burbank, Los Angeles County, Calif.)Role of AQP1 in the Ameliorating Effect of Electroacupuncture in a Rodent Model of Visceral Hypersensitivity.
Digestive diseases and sciencesSurgical and nutritional outcomes of extremely low birth weight infants with enterostomy: a single-center retrospective study in China.
Pediatric surgery international[Effect of moxibustion on small intestinal mucosal immune barrier in rats with diarrhea-predominant irritable bowel syndrome].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionPostextubation use of non-invasive respiratory support in preterm infants: a network meta-analysis.
The Cochrane database of systematic reviewsEarly Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease.
American journal of medical genetics. Part ANon-invasive respiratory support in preterm infants as primary mode: a network meta-analysis.
The Cochrane database of systematic reviewsAnalysis of risk factors affecting psycho-behavioural development in children with short bowel syndrome.
Pediatric surgery internationalMolecular Characterization of a Rare ESBL E. coli Strain Causing a Necrotizing Enterocolitis Outbreak in Preterm Infants.
The Pediatric infectious disease journalFrom prenatal detection to postnatal evaluation: a retrospective observational ultrasound study of patent urachus with allantoic cyst.
BMC pregnancy and childbirthLactobacillus rhamnosus GG maintains gut microbiota stability and promotes intestinal adaptation via activated intestinal farnesoid X receptor signaling in short bowel syndrome.
Communications biologyIntestinal autonomy in extreme premature infants with short bowel syndrome: national experience.
Pediatric surgery internationalGlobal prevalence of short bowel syndrome-associated intestinal failure in adults and children: A targeted literature review and analysis.
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral NutritionPractical experience in the surgical treatment of newborns with isolated gastrointestinal perforations based on scientific evidence.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.
Neurogastroenterology and motilityHydrostatic low-volume enemas in infants with birth weight ≤1000 g or gestational age ≤28 weeks: A controlled interventional study.
Journal of pediatric gastroenterology and nutritionThe incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.
Journal of pediatric urologyTrisomy 21 Children With Duodenal Atresia or Anorectal Malformation: NSQIP-P Surgical Outcomes Study.
The Journal of surgical researchManagement and Outcomes of Jejunoileal Atresia Within the United Kingdom.
Journal of pediatric surgeryAtypical Presentation of Duodenal Atresia in a Newborn With Trisomy 21: A Simulated Case Report and Narrative Review.
Pediatric annalsEpidemiology of Shigella species and serotypes in children: a retrospective substudy of the MAL-ED observational birth cohort study.
The Lancet. MicrobePregnancy Antitissue Transglutaminase Immunoglobulin A Seropositivity and Maternal and Infant Health in the Child Health and Development Studies.
The American journal of gastroenterologyBedside ultrasound-guided contrast enema for preterm infants with suspected meconium plug syndrome: a 10-year single-center experience.
European radiologyShared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.
The journal of allergy and clinical immunology. In practiceCongenital Diarrhea and Enteropathies.
NeoReviewsSocial and Financial Costs of Neonatal Intestinal Failure.
JAMA network open[Simple gastroschisis complicated by multiple perforations, frozen abdomen, and loss of abdominal domain].
Anales del sistema sanitario de NavarraPotentiation of visualized exosomal miR-1306-3p from primary sensory neurons contributes to chronic visceral pain via spinal P2X3 receptors.
PainTTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clinical reviews in allergy & immunologyPPARγ activation attenuates neonatal CRD-induced visceral pain sensitization and anxiety in male rats by alleviating oxidative stress.
BMC gastroenterology[Disease burden of communicable diseases among children and adolescents aged under 20 years in China from 1990 to 2021].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsClinical characteristics and management of reoperation for high jejunal atresia: a retrospective study.
Pediatric surgery internationalBovine Colostrum in Pediatric Nutrition and Health.
NutrientsManagement of pediatric Peutz-Jeghers syndrome: Highlighting the efficacy and safety of endoscopic ischemic polypectomy.
Journal of pediatric gastroenterology and nutritionExploring the mechanism and effective compounds of Changan Granule on diarrhea-predominant irritable bowel syndrome via regulating 5-hydroxytryptamine signaling pathway in brain-gut axis.
Phytomedicine : international journal of phytotherapy and phytopharmacologyVascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
European journal of human genetics : EJHGCharacterising the metabolic functionality of the preterm neonatal gut microbiome prior to the onset of necrotising enterocolitis: a pilot study.
BMC microbiologyDiagnostic value of laboratory markers of enteric dysfunction in preterm infants.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Abdominal kaposiform hemangioendothelioma presenting as volvulus and recurring intestinal obstruction in a neonate: a case report.
Journal of medical case reportsThe landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.
The Lancet. OncologyGlobal Prevalence of Duodenal Atresia in Trisomy 21: A Systematic Review and Meta-Analysis.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgiePrenatal-Postnatal Outcomes and Prognostic Risk Factors of Fetal Volvulus: Analysis of 26 Cases.
Prenatal diagnosisOnline registry of neonatal necrotising enterocolitis in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.
BMJ openComparison of Necrotizing Enterocolitis After Surgical Norwood versus Hybrid Stage 1 Palliation.
Pediatric cardiologyFactors Associated with Postoperative Complications After Congenital Duodenal Obstruction Surgery: A Retrospective Study.
Medicina (Kaunas, Lithuania)A budget impact analysis of exclusive human milk diet in very low birth weight infants in United Arab Emirates.
Journal of medical economicsThree cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).
Pediatric rheumatology online journalA Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.
Fetal and pediatric pathologyUltrasound for infantile midgut malrotation: Techniques, pearls, and pitfalls.
Pediatric radiologyCongenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21.
Birth defects researchRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectClinical Analysis of Inhaled Nitric Oxide Therapy in Preterm Infants at Different Gestational Ages: A National Retrospective Multicenter Study.
American journal of perinatologyEvaluation of growth and feeding tolerance in infants with single-ventricle physiology receiving retrospective standard of care feeding regimens compared with protocolised formula or exclusive human milk feeding regimens.
Cardiology in the youngThe ratio of remaining to expected small bowel length predicts enteral autonomy in pediatric patients with short bowel syndrome.
Biomedical journalGenetic background of neonatal hypokalemia.
Pediatric nephrology (Berlin, Germany)Maternal autoimmune disease and offspring risk of haematological malignancies: a case-control study.
EClinicalMedicineRetrospective review of growth in pediatric intestinal failure after weaning from parenteral nutrition.
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral NutritionPaediatric abdominal compartment syndrome in a 4.6 kg infant.
BMJ case reportsSurgical Outcomes for Patients With Trisomy 21 and Hirschsprung's Disease: An NSQIP-Pediatric Study.
The Journal of surgical research[Chinese expert consensus on the application of electrolytes in parenteral nutrition (2024 edition)].
Zhonghua yi xue za zhiGut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol.
BMJ open gastroenterologyClues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.
PediatricsFrequency of seropositive celiac disease and hypothyroidism among children and adolescents with congenital heart disease: A case-control study.
BMC pediatricsSARS-CoV-2 co-detection with other respiratory pathogens-descriptive epidemiological study.
Respiratory investigationManagement and Outcomes of Intestinal Atresia - A Single Institution Experience From 1947 to 2019.
Journal of pediatric surgeryNatural history of deoxyguanosine kinase deficiency.
Molecular genetics and metabolismA multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome.
Pediatric surgery internationalIntestinal microbial and metabolite profile in infants with small bowel stomas after bowel resection.
Journal of pediatric gastroenterology and nutritionFortified milk: a rare cause of intestinal obstruction in pre-term patients.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaGut microbiota in infants with food protein enterocolitis.
Pediatric researchInfluence of Early Total Enteral Feeding in Preterm Infants with Respiratory Distress Syndrome.
NeonatologyIndications for extensively hydrolyzed cow's milk protein in the neonatal period.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieHuman HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
eLifeThe postoperative renal function of persistent cloaca patients treated by posterior sagittal anorecto-urethro-vaginopalsty: results of a nationwide survey in Japan.
Pediatric surgery internationalThe use of postoperative calibrations in Hirschsprung disease: a practice to reconsider?
Pediatric surgery internationalAssociations between hospital-level socioeconomic patient mix and rates of central line-associated bloodstream infections in short bowel syndrome: A retrospective cohort study.
JPEN. Journal of parenteral and enteral nutritionNutritional Strategies for Preterm Neonates and Preterm Neonates Undergoing Surgery: New Insights for Practice and Wrong Beliefs to Uproot.
NutrientsParenteral fish oil lipid emulsion use in adults: a case series and review from an intestinal failure referral center.
European journal of clinical nutritionNeonatal Sweet syndrome with associated rectovestibular fistula and review of the literature.
Pediatric dermatologyUnusual neonatal case of superior mesenteric artery syndrome with Meckel's diverticulum and literature review.
Cirugia y cirujanosInvestigations, management and outcome of neonates presenting with distal intestinal obstruction: challenging the need for contrast enemas.
Pediatric surgery internationalDuodenal Atresia in Finland from 2004 to 2017: Prevalence, Mortality, and Associated Anomalies-A Population-Based Study.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieClinical-Hematological Changes and Predictors of Severity in Acute Food Protein-Induced Enterocolitis Syndrome Reactions at Oral Food Challenge: A Multicenter Observational Study.
The journal of allergy and clinical immunology. In practiceUpregulation of KDM6B in the anterior cingulate cortex contributes to neonatal maternal deprivation-induced chronic visceral pain in mice.
Molecular painNecrotizing enterocolitis in monochorionic twins: Insights from an identical twin model.
Early human developmentAssociation between Gestational Age and Perinatal Outcomes in Women with Late Preterm Premature Rupture of Membranes.
American journal of perinatologyUltrasound and computed tomography angiography diagnosis of fetal right atrial isomerism with cardiac total anomalous pulmonary venous connection and intestinal malrotation: a case report and literature review.
Pediatric radiologyPrevalence and Outcomes of Gastrointestinal Anomalies in Down Syndrome.
American journal of perinatologyCharacteristics of food protein-induced enterocolitis syndrome with metabolic acidosis: A case-control study.
Allergology international : official journal of the Japanese Society of AllergologyDa-Jian-Zhong decoction alleviates diarrhea-predominant irritable bowel syndrome via modulation of gut microbiota and Th17/Treg balance.
Journal of ethnopharmacologyCore Outcome Set for Necrotizing Enterocolitis Treatment Trials.
PediatricsNo safe time window in malrotation and volvulus: A consecutive cohort study.
Journal of paediatrics and child healthMegacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.
Pediatric surgery internationalScreening of probiotic strains to improve visceral hypersensitivity in irritable bowel syndrome by using in vitro and in vivo approaches.
Beneficial microbesChang-Kang-Fang alleviates diarrhea predominant irritable bowel syndrome (IBS-D) through inhibiting TLR4/NF-κB/NLRP3 pathway.
Journal of ethnopharmacologyThe Incidence and Relevance of Hematochezia in the Interstage Congenital Heart Population.
Pediatric cardiologyGastrointestinal effects of caffeine in preterm infants: a systematic review and Bayesian meta-analysis.
Archives of disease in childhood. Fetal and neonatal editionMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management.
BMJ case reportsNon-syndromic Hirschsprung's disease as a result of a RET gene variant.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaRespiratory distress syndrome is associated with increased morbidity and mortality in late preterm births.
American journal of obstetrics & gynecology MFMComparison of two formulations of intravenous lipid emulsions in pediatric intestinal failure.
Pediatric surgery internationalGastrointestinal Ostomies in Children: A Primer for the Pediatrician.
Pediatrics in reviewHeterogeneity of food protein-induced enterocolitis syndrome (FPIES).
Allergology international : official journal of the Japanese Society of AllergologyHyperglycemia in pregnancy did not worsen the short-term outcomes of very preterm infants: a propensity score matching study.
Frontiers in pediatrics[Non-IgE-mediated food allergy].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Role of the GLP2-Wnt1 axis in silicon-rich alkaline mineral water maintaining intestinal epithelium regeneration in piglets under early-life stress.
Cellular and molecular life sciences : CMLSThe role of nutrition in analysis of risk factors and short-term outcomes for late-onset necrotizing enterocolitis among very preterm infants: a nationwide, multicenter study in China.
BMC pediatrics[Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAutoimmune diseases and adverse pregnancy outcomes: an umbrella review.
BMC medicineFactors influencing necrotizing enterocolitis in premature infants in China: a systematic review and meta-analysis.
BMC pediatricsManagement of Hematochezia in Infants with Congenital Heart Disease Admitted to the Acute Care Cardiology Unit: A Multicenter Retrospective Pilot Study.
The Journal of pediatricsMortality, morbidity, and care practices for 1750 very low birth weight infants, 2016-2021.
Chinese medical journalAssociation between 4%-tetrasodium EDTA and sepsis in neonatal piglets: A retrospective cohort study.
JPEN. Journal of parenteral and enteral nutritionIdentification of the DNA methylation signature of Mowat-Wilson syndrome.
European journal of human genetics : EJHGNeonatal Outcomes among Fetuses with an Abdominal Circumference <3rd %ile and Estimated Fetal Weight 3rd to 9th %ile Compared to Fetuses with an EFW <3rd %ile.
American journal of perinatologyNeurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.
Pediatric surgery internationalCausal relationship between gut microbiota and kidney diseases: a two-sample Mendelian randomization study.
Frontiers in immunologyDevelopment of a Prediction Model for Surgery or Early Mortality at the Time of Initial Assessment for Necrotizing Enterocolitis.
American journal of perinatologySevere Early-Onset Vitamin K Deficiency Bleeding in a Neonate Born to a Mother with Crohn's Disease in Clinical Remission: A Case Report.
AJP reportsClinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Arthritis & rheumatology (Hoboken, N.J.)NHE3 inhibitor tenapanor maintains intestinal barrier function, decreases visceral hypersensitivity, and attenuates TRPV1 signaling in colonic sensory neurons.
American journal of physiology. Gastrointestinal and liver physiology"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Journal of clinical immunologySyndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
Taiwanese journal of obstetrics & gynecologyChromosomal abnormalities associated with fetal megacystis.
Taiwanese journal of obstetrics & gynecologyPasteurized akkermansia muciniphila improves irritable bowel syndrome-like symptoms and related behavioral disorders in mice.
Gut microbesMachine learning analysis with population data for the associations of preterm birth with temporomandibular disorder and gastrointestinal diseases.
PloS oneQuality of Life in Long-Term Survivors of Surgical Necrotizing Enterocolitis.
Journal of pediatric surgeryModulation of intestinal TLR4 expression in infants with neonatal opioid withdrawal syndrome.
Journal of perinatology : official journal of the California Perinatal AssociationPoint-of-care ultrasound evaluation of suspected necrotizing enterocolitis in the ED.
The American journal of emergency medicineApproach to Congenital Diarrhea and Enteropathies (CODEs).
Indian journal of pediatricsThe autoinflammation-associated NLRC4V341A mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.
Frontiers in immunologyHydropneumothorax in a neonate caused by esophageal rupture with duodenal obstruction.
Pediatrics international : official journal of the Japan Pediatric SocietyCystic fibrosis transmembrane conductance regulator modulator administration to a F508del heterozygous infant with meconium pseudocyst and short bowel syndrome: A case report.
Pediatric pulmonologyYellow Nail Syndrome: Analysis of 23 Consecutive Patients and Effect of Combined Fluconazole-Vitamin-E Treatment.
Dermatology (Basel, Switzerland)Mode of delivery and neonatal outcomes in preterm twins less than 32 weeks of gestation or birthweight under 1500 g: a systematic review and meta-analyses.
Archives of gynecology and obstetricsSmall and large bowel anatomy is associated with enteral autonomy in infants with short bowel syndrome: A retrospective cohort study.
JPEN. Journal of parenteral and enteral nutritionParenteral support and micronutrient deficiencies in children with short bowel syndrome: A comprehensive retrospective study.
Clinical nutrition ESPENNutritional and health effects of bovine colostrum in neonates.
Nutrition reviewsIntractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverCongenital Diarrhoea In A Neonate With Hypernatraemia And Dehydration.
JPMA. The Journal of the Pakistan Medical AssociationParaventricular thalamus-insular cortex circuit mediates colorectal visceral pain induced by neonatal colonic inflammation in mice.
CNS neuroscience & therapeuticsGeneration and characterization of Chd7-iCreERT2-tdTomato mice.
Genesis (New York, N.Y. : 2000)Modulation of Intestinal Motility in an Adolescent Rat Model of Irritable Bowel Syndrome.
DigestionBaizhu shaoyao decoction restores the intestinal barrier and brain-gut axis balance to alleviate diarrhea-predominant irritable bowel syndrome via FoxO1/FoxO3a.
Phytomedicine : international journal of phytotherapy and phytopharmacologyLoss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.
Developmental biologyA case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.
Pediatric dermatologyLongitudinal Follow-Up of Children With HLHS and Association Between Norwood Shunt Type and Long-Term Outcomes: The SVR III Study.
CirculationIncidence and predictors of mortality among low birth weight neonates in the first week of life admitted to the neonatal intensive care unit in Northwestern Ethiopia comprehensive specialized hospitals, 2022. Multi-center institution-based retrospective follow-up study.
BMC pediatricsEffects of Milrinone on Neonates after Patent Ductus Arteriosus Ligation: A Retrospective Nationwide Database Study.
NeonatologyCase report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.
Frontiers in endocrinologyReport and follow-up on two new patients with congenital mesoblastic nephroma.
Italian journal of pediatricsA case of neonatal sweet syndrome associated with mevalonate kinase deficiency.
Pediatric rheumatology online journalSLAB51 Multi-Strain Probiotic Formula Increases Oxygenation in Oxygen-Treated Preterm Infants.
NutrientsCase of split notochord syndrome: a neonate with thoracic neuroenteric cyst, abdominal duodenal duplication cyst, malrotation and vertebral anomalies.
BMJ case reportsHuman Milk Feeding and Direct Breastfeeding Improve Outcomes for Infants With Single Ventricle Congenital Heart Disease: Propensity Score-Matched Analysis of the NPC-QIC Registry.
Journal of the American Heart AssociationNeonatal Intestinal Segmental Volvulus: What Are the Differences with Midgut Volvulus?
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieAcute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.
Pediatric annalsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença inflamatória do intestino e da pele neonatal.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença inflamatória do intestino e da pele neonatal
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
- Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.
- Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
- A Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.
- Cluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.
- Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.
- A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:294023(Orphanet)
- MONDO:0017411(MONDO)
- GARD:17355(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56013995(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar