Raras
Buscar doenças, sintomas, genes...
Doença inflamatória do intestino e da pele neonatal
ORPHA:294023CID-10 · D84.8CID-11 ·  4A6YDOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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).

Publicações científicas
2 artigos
Último publicado: 2026 Mar-Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D84.8
Você se identifica com essa condição?
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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

🧬
Pele e cabelo
7 sintomas
🫃
Digestivo
6 sintomas
❤️
Coração
2 sintomas
👁️
Olhos
2 sintomas
🫁
Pulmão
2 sintomas
😀
Face
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

55%prev.
Anormalidade generalizada da pele
Frequente (79-30%)
55%prev.
Gastroenterite recorrente
Frequente (79-30%)
55%prev.
Onicogrifose
Frequente (79-30%)
55%prev.
Otite externa
Frequente (79-30%)
55%prev.
Infecções bacterianas cutâneas recorrentes
Frequente (79-30%)
55%prev.
Infecção ungueal monilíaca crônica
Frequente (79-30%)
37sintomas
Frequente (17)
Ocasional (1)
Sem dados (19)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

Anormalidade generalizada da peleGeneralized abnormality of skin
Frequente (79-30%)55%
Gastroenterite recorrenteRecurrent gastroenteritis
Frequente (79-30%)55%
OnicogrifoseOnychogryposis
Frequente (79-30%)55%
Otite externaOtitis externa
Frequente (79-30%)55%
Infecções bacterianas cutâneas recorrentesRecurrent bacterial skin infections
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2PubMed
Últimos 10 anos200publicações
Pico202494 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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.

ADAM17Disintegrin and metalloproteinase domain-containing protein 17Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (10)
Signaling by EGFRActivated NOTCH1 Transmits Signal to the NucleusConstitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation MutantConstitutive Signaling by NOTCH1 HD+PEST Domain MutantsConstitutive Signaling by NOTCH1 PEST Domain Mutants
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (2)
inflammatory skin and bowel disease, neonatal, 1neonatal inflammatory skin and bowel disease
HGNC:195UniProt:P78536
EGFREpidermal growth factor receptorDisease-causing germline mutation(s) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneGolgi apparatus membraneNucleus membraneEndosomeEndosome membraneNucleusSecreted

VIAS BIOLÓGICAS (10)
Signaling by EGFRInhibition of Signaling by Overexpressed EGFRSignaling by ERBB2Signaling by ERBB4Signaling by ERBB2 TMD/JMD mutants
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
78.3 TPM
Skin Not Sun Exposed Suprapubic
75.9 TPM
Fibroblastos
60.6 TPM
Nervo tibial
43.1 TPM
Vagina
40.6 TPM
OUTRAS DOENÇAS (4)
inflammatory skin and bowel disease, neonatal, 2lung cancergliosarcomagiant cell glioblastoma
HGNC:3236UniProt:P00533

Variantes genéticas (ClinVar)

294 variantes patogênicas registradas no ClinVar.

🧬 EGFR: NM_005228.5(EGFR):c.1214del (p.Leu405fs) ()
🧬 EGFR: NM_005228.5(EGFR):c.1823G>A (p.Trp608Ter) ()
🧬 EGFR: NM_005228.5(EGFR):c.637del (p.Ile213fs) ()
🧬 EGFR: NM_005228.5(EGFR):c.2479del (p.Tyr827fs) ()
🧬 EGFR: NM_005228.5(EGFR):c.718_722dup (p.Gly242fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

42 vias biológicas associadas aos genes desta condição.

Nuclear signaling by ERBB4 Collagen degradation Signaling by EGFR Regulated proteolysis of p75NTR Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Release of Hh-Np from the secreting cell TNF signaling CD163 mediating an anti-inflammatory response Growth hormone receptor signaling Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling PIP3 activates AKT signaling GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma EGFR Transactivation by Gastrin Constitutive Signaling by Aberrant PI3K in Cancer Signal transduction by L1 Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis PTK6 promotes HIF1A stabilization Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
1Fase 11
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
2 papers (10 anos)
#1

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 Neuroscience2026 Apr

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.

#2

Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.

PloS one2026

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.

#3

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

BMJ case reports2026 Feb 20

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.

#4

A Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.

International journal of molecular sciences2026 Jan 09

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.

#5

Cluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.

BMC pediatrics2026 Jan 05

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

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

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

Difficulties in diagnosing a pediatric patient with small intestinal bacterial overgrowth.

Einstein (Sao Paulo, Brazil)
2026

Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.

PloS one
2026

Hippocampal Neuronal Ferroptosis Driven by Lipocalin-2 Mediates Comorbid Visceral Pain and Anxiety in Irritable Bowel Syndrome.

Molecular neurobiology
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Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

BMJ case reports
2026

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

European journal of medical genetics
2026

A Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.

International journal of molecular sciences
2026

Imaging of megacystis-microcolon-intestinal hypoperistalsis syndrome before, during, and after the neonatal period: a pictorial review.

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2026

Is 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 international
2026

Congenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review.

Journal of pediatric surgery
2026

Cluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.

BMC pediatrics
2025

Prevalence, risk factors and mortality associated with colonic atresia: a population-based case-control study.

Pediatric surgery international
2026

Food Protein-Induced Enterocolitis Syndrome Masquerading as Sepsis in Early Infancy.

Rhode Island medical journal (2013)
2025

Comparisons of fecal microbiota and cytokines in preterm infants preceding necrotizing enterocolitis and feeding intolerance: An observational study.

Medicine
2025

SARS-CoV-2 infection during pregnancy and necrotizing enterocolitis: case report and review of the literature.

Italian journal of pediatrics
2025

Epidemiological Characteristics of Pediatric Patients with Intestinal Failure in Spain: Data from the REPAFI Registry.

Nutrients
2025

Omphalocele 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
2025

[Benefits and risks of antenatal corticosteroids].

Gynecologie, obstetrique, fertilite &amp; senologie
2026

A rare cause of a rare entity - Milk curd syndrome: A case series and review of literature.

Tropical doctor
2025

Predictive value of biomarkers in neonatal necrotizing enterocolitis.

Frontiers in pediatrics
2025

Neonatal duodenal atresia with heterotopic pancreas: a case report and literature review.

Frontiers in pediatrics
2025

Microbiota decolonization of bacterial pathogens in pediatric surgery-related intestinal disorders: Insights on current strategies and future outlook.

World journal of clinical pediatrics
2026

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Clinical genetics
2025

Development and validation of a nomogram for predicting necrotizing enterocolitis in premature infants with early-onset sepsis.

Scientific reports
2026

Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.

International journal of clinical oncology
2025

Diffuse pneumatosis intestinalis caused by food protein-induced enterocolitis-a case report.

AME case reports
2025

Establishing and validating syndromic surveillance of gastrointestinal infections using routine emergency department data, Germany, 2019-2023.

Scientific reports
2025

Smooth muscle cell (SMC)-Specific SNRK deletion in mouse causes congenital short bowel syndrome and premature death.

Biochemistry and biophysics reports
2025

Effectiveness of Antenatal Corticosteroids in reducing morbidities and mortality in Preterm neonates: Evidence from a Tertiary Level Hospital in Nepal.

PloS one
2025

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Journal of clinical medicine
2025

Effect of thoracic squeeze technique and Yakson technique in preterm infants having respiratory distress syndrome along with spontaneous intestinal perforation.

BMJ case reports
2025

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

Molecular genetics &amp; genomic medicine
2025

Does colostrum play a role in intestinal adaptation? A systematic review of literature.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2025

The relationship among NICU stressors and irritable bowel syndrome in parents during their infant stay: the mediating role of anxiety.

Italian journal of pediatrics
2025

Outcome trends in preterm infants with incomplete antenatal corticosteroid cycles: Is 6 h enough?

European journal of obstetrics, gynecology, and reproductive biology
2025

Abdominal compartment syndrome in the pediatric population - Case series and review of the literature.

The American journal of emergency medicine
2025

Do functional gut parameters predict enteral autonomy and chronic cholestasis in pediatric intestinal failure?

Clinical nutrition (Edinburgh, Scotland)
2025

Concurrent congenital diaphragmatic hernia and Hirschsprung's disease: a diagnostic dilemma with therapeutic implications-a case report and literature review.

Journal of surgical case reports
2025

Phenotypes and follow-up of chronic cow's milk food protein-induced enterocolitis syndrome: A 16-year prospective observational study.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2026

Meconium-related obstruction: Contemporary experience in a multi-institutional consortium.

Journal of pediatric surgery
2025

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

American journal of medical genetics. Part A
2025

Enhancing pediatric practice: A comprehensive review on malabsorption in pediatrics for diagnostic and management approach.

Nutrition (Burbank, Los Angeles County, Calif.)
2026

Role of AQP1 in the Ameliorating Effect of Electroacupuncture in a Rodent Model of Visceral Hypersensitivity.

Digestive diseases and sciences
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Surgical and nutritional outcomes of extremely low birth weight infants with enterostomy: a single-center retrospective study in China.

Pediatric surgery international
2025

[Effect of moxibustion on small intestinal mucosal immune barrier in rats with diarrhea-predominant irritable bowel syndrome].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Postextubation use of non-invasive respiratory support in preterm infants: a network meta-analysis.

The Cochrane database of systematic reviews
2025

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease.

American journal of medical genetics. Part A
2025

Non-invasive respiratory support in preterm infants as primary mode: a network meta-analysis.

The Cochrane database of systematic reviews
2025

Analysis of risk factors affecting psycho-behavioural development in children with short bowel syndrome.

Pediatric surgery international
2025

Molecular Characterization of a Rare ESBL E. coli Strain Causing a Necrotizing Enterocolitis Outbreak in Preterm Infants.

The Pediatric infectious disease journal
2025

From prenatal detection to postnatal evaluation: a retrospective observational ultrasound study of patent urachus with allantoic cyst.

BMC pregnancy and childbirth
2025

Lactobacillus rhamnosus GG maintains gut microbiota stability and promotes intestinal adaptation via activated intestinal farnesoid X receptor signaling in short bowel syndrome.

Communications biology
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Intestinal autonomy in extreme premature infants with short bowel syndrome: national experience.

Pediatric surgery international
2025

Global 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 Nutrition
2025

Practical experience in the surgical treatment of newborns with isolated gastrointestinal perforations based on scientific evidence.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2025

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.

Neurogastroenterology and motility
2025

Hydrostatic low-volume enemas in infants with birth weight ≤1000 g or gestational age ≤28 weeks: A controlled interventional study.

Journal of pediatric gastroenterology and nutrition
2025

The incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.

Journal of pediatric urology
2025

Trisomy 21 Children With Duodenal Atresia or Anorectal Malformation: NSQIP-P Surgical Outcomes Study.

The Journal of surgical research
2025

Management and Outcomes of Jejunoileal Atresia Within the United Kingdom.

Journal of pediatric surgery
2025

Atypical Presentation of Duodenal Atresia in a Newborn With Trisomy 21: A Simulated Case Report and Narrative Review.

Pediatric annals
2025

Epidemiology of Shigella species and serotypes in children: a retrospective substudy of the MAL-ED observational birth cohort study.

The Lancet. Microbe
2025

Pregnancy Antitissue Transglutaminase Immunoglobulin A Seropositivity and Maternal and Infant Health in the Child Health and Development Studies.

The American journal of gastroenterology
2025

Bedside ultrasound-guided contrast enema for preterm infants with suspected meconium plug syndrome: a 10-year single-center experience.

European radiology
2025

Shared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.

The journal of allergy and clinical immunology. In practice
2025

Congenital Diarrhea and Enteropathies.

NeoReviews
2025

Social and Financial Costs of Neonatal Intestinal Failure.

JAMA network open
2025

[Simple gastroschisis complicated by multiple perforations, frozen abdomen, and loss of abdominal domain].

Anales del sistema sanitario de Navarra
2025

Potentiation of visualized exosomal miR-1306-3p from primary sensory neurons contributes to chronic visceral pain via spinal P2X3 receptors.

Pain
2025

TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Clinical reviews in allergy &amp; immunology
2025

PPARγ activation attenuates neonatal CRD-induced visceral pain sensitization and anxiety in male rats by alleviating oxidative stress.

BMC gastroenterology
2025

[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 pediatrics
2025

Clinical characteristics and management of reoperation for high jejunal atresia: a retrospective study.

Pediatric surgery international
2024

Bovine Colostrum in Pediatric Nutrition and Health.

Nutrients
2025

Management of pediatric Peutz-Jeghers syndrome: Highlighting the efficacy and safety of endoscopic ischemic polypectomy.

Journal of pediatric gastroenterology and nutrition
2025

Exploring 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 phytopharmacology
2025

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

European journal of human genetics : EJHG
2024

Characterising the metabolic functionality of the preterm neonatal gut microbiome prior to the onset of necrotising enterocolitis: a pilot study.

BMC microbiology
2024

Diagnostic value of laboratory markers of enteric dysfunction in preterm infants.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2024

Abdominal kaposiform hemangioendothelioma presenting as volvulus and recurring intestinal obstruction in a neonate: a case report.

Journal of medical case reports
2025

The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.

The Lancet. Oncology
2025

Global 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 Kinderchirurgie
2025

Prenatal-Postnatal Outcomes and Prognostic Risk Factors of Fetal Volvulus: Analysis of 26 Cases.

Prenatal diagnosis
2024

Online registry of neonatal necrotising enterocolitis in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.

BMJ open
2025

Comparison of Necrotizing Enterocolitis After Surgical Norwood versus Hybrid Stage 1 Palliation.

Pediatric cardiology
2024

Factors Associated with Postoperative Complications After Congenital Duodenal Obstruction Surgery: A Retrospective Study.

Medicina (Kaunas, Lithuania)
2024

A budget impact analysis of exclusive human milk diet in very low birth weight infants in United Arab Emirates.

Journal of medical economics
2024

Three 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 journal
2025

A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.

Fetal and pediatric pathology
2024

Ultrasound for infantile midgut malrotation: Techniques, pearls, and pitfalls.

Pediatric radiology
2024

Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21.

Birth defects research
2024

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Allergologie select
2025

Clinical Analysis of Inhaled Nitric Oxide Therapy in Preterm Infants at Different Gestational Ages: A National Retrospective Multicenter Study.

American journal of perinatology
2024

Evaluation 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 young
2025

The ratio of remaining to expected small bowel length predicts enteral autonomy in pediatric patients with short bowel syndrome.

Biomedical journal
2025

Genetic background of neonatal hypokalemia.

Pediatric nephrology (Berlin, Germany)
2024

Maternal autoimmune disease and offspring risk of haematological malignancies: a case-control study.

EClinicalMedicine
2025

Retrospective 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 Nutrition
2024

Paediatric abdominal compartment syndrome in a 4.6 kg infant.

BMJ case reports
2024

Surgical Outcomes for Patients With Trisomy 21 and Hirschsprung's Disease: An NSQIP-Pediatric Study.

The Journal of surgical research
2024

[Chinese expert consensus on the application of electrolytes in parenteral nutrition (2024 edition)].

Zhonghua yi xue za zhi
2024

Gut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol.

BMJ open gastroenterology
2024

Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.

Pediatrics
2024

Frequency of seropositive celiac disease and hypothyroidism among children and adolescents with congenital heart disease: A case-control study.

BMC pediatrics
2024

SARS-CoV-2 co-detection with other respiratory pathogens-descriptive epidemiological study.

Respiratory investigation
2024

Management and Outcomes of Intestinal Atresia - A Single Institution Experience From 1947 to 2019.

Journal of pediatric surgery
2024

Natural history of deoxyguanosine kinase deficiency.

Molecular genetics and metabolism
2024

A 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 international
2024

Intestinal microbial and metabolite profile in infants with small bowel stomas after bowel resection.

Journal of pediatric gastroenterology and nutrition
2024

Fortified milk: a rare cause of intestinal obstruction in pre-term patients.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2025

Gut microbiota in infants with food protein enterocolitis.

Pediatric research
2025

Influence of Early Total Enteral Feeding in Preterm Infants with Respiratory Distress Syndrome.

Neonatology
2024

Indications for extensively hydrolyzed cow's milk protein in the neonatal period.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2024

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.

eLife
2024

The postoperative renal function of persistent cloaca patients treated by posterior sagittal anorecto-urethro-vaginopalsty: results of a nationwide survey in Japan.

Pediatric surgery international
2024

The use of postoperative calibrations in Hirschsprung disease: a practice to reconsider?

Pediatric surgery international
2024

Associations 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 nutrition
2024

Nutritional Strategies for Preterm Neonates and Preterm Neonates Undergoing Surgery: New Insights for Practice and Wrong Beliefs to Uproot.

Nutrients
2024

Parenteral fish oil lipid emulsion use in adults: a case series and review from an intestinal failure referral center.

European journal of clinical nutrition
2024

Neonatal Sweet syndrome with associated rectovestibular fistula and review of the literature.

Pediatric dermatology
2024

Unusual neonatal case of superior mesenteric artery syndrome with Meckel's diverticulum and literature review.

Cirugia y cirujanos
2024

Investigations, management and outcome of neonates presenting with distal intestinal obstruction: challenging the need for contrast enemas.

Pediatric surgery international
2024

Duodenal 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 Kinderchirurgie
2024

Clinical-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 practice
2024

Upregulation of KDM6B in the anterior cingulate cortex contributes to neonatal maternal deprivation-induced chronic visceral pain in mice.

Molecular pain
2024

Necrotizing enterocolitis in monochorionic twins: Insights from an identical twin model.

Early human development
2024

Association between Gestational Age and Perinatal Outcomes in Women with Late Preterm Premature Rupture of Membranes.

American journal of perinatology
2024

Ultrasound 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 radiology
2024

Prevalence and Outcomes of Gastrointestinal Anomalies in Down Syndrome.

American journal of perinatology
2024

Characteristics of food protein-induced enterocolitis syndrome with metabolic acidosis: A case-control study.

Allergology international : official journal of the Japanese Society of Allergology
2024

Da-Jian-Zhong decoction alleviates diarrhea-predominant irritable bowel syndrome via modulation of gut microbiota and Th17/Treg balance.

Journal of ethnopharmacology
2024

Core Outcome Set for Necrotizing Enterocolitis Treatment Trials.

Pediatrics
2024

No safe time window in malrotation and volvulus: A consecutive cohort study.

Journal of paediatrics and child health
2024

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.

Pediatric surgery international
2024

Screening of probiotic strains to improve visceral hypersensitivity in irritable bowel syndrome by using in vitro and in vivo approaches.

Beneficial microbes
2024

Chang-Kang-Fang alleviates diarrhea predominant irritable bowel syndrome (IBS-D) through inhibiting TLR4/NF-κB/NLRP3 pathway.

Journal of ethnopharmacology
2025

The Incidence and Relevance of Hematochezia in the Interstage Congenital Heart Population.

Pediatric cardiology
2024

Gastrointestinal effects of caffeine in preterm infants: a systematic review and Bayesian meta-analysis.

Archives of disease in childhood. Fetal and neonatal edition
2024

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management.

BMJ case reports
2024

Non-syndromic Hirschsprung's disease as a result of a RET gene variant.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2024

Respiratory distress syndrome is associated with increased morbidity and mortality in late preterm births.

American journal of obstetrics &amp; gynecology MFM
2024

Comparison of two formulations of intravenous lipid emulsions in pediatric intestinal failure.

Pediatric surgery international
2024

Gastrointestinal Ostomies in Children: A Primer for the Pediatrician.

Pediatrics in review
2024

Heterogeneity of food protein-induced enterocolitis syndrome (FPIES).

Allergology international : official journal of the Japanese Society of Allergology
2024

Hyperglycemia in pregnancy did not worsen the short-term outcomes of very preterm infants: a propensity score matching study.

Frontiers in pediatrics
2023

[Non-IgE-mediated food allergy].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2024

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 : CMLS
2024

The 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
2024

[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 genetics
2024

Autoimmune diseases and adverse pregnancy outcomes: an umbrella review.

BMC medicine
2024

Factors influencing necrotizing enterocolitis in premature infants in China: a systematic review and meta-analysis.

BMC pediatrics
2024

Management of Hematochezia in Infants with Congenital Heart Disease Admitted to the Acute Care Cardiology Unit: A Multicenter Retrospective Pilot Study.

The Journal of pediatrics
2024

Mortality, morbidity, and care practices for 1750 very low birth weight infants, 2016-2021.

Chinese medical journal
2024

Association between 4%-tetrasodium EDTA and sepsis in neonatal piglets: A retrospective cohort study.

JPEN. Journal of parenteral and enteral nutrition
2024

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

European journal of human genetics : EJHG
2024

Neonatal 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 perinatology
2024

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.

Pediatric surgery international
2023

Causal relationship between gut microbiota and kidney diseases: a two-sample Mendelian randomization study.

Frontiers in immunology
2024

Development of a Prediction Model for Surgery or Early Mortality at the Time of Initial Assessment for Necrotizing Enterocolitis.

American journal of perinatology
2024

Severe Early-Onset Vitamin K Deficiency Bleeding in a Neonate Born to a Mother with Crohn's Disease in Clinical Remission: A Case Report.

AJP reports
2024

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

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
2024

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Journal of clinical immunology
2024

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

Taiwanese journal of obstetrics &amp; gynecology
2024

Chromosomal abnormalities associated with fetal megacystis.

Taiwanese journal of obstetrics &amp; gynecology
2024

Pasteurized akkermansia muciniphila improves irritable bowel syndrome-like symptoms and related behavioral disorders in mice.

Gut microbes
2024

Machine learning analysis with population data for the associations of preterm birth with temporomandibular disorder and gastrointestinal diseases.

PloS one
2024

Quality of Life in Long-Term Survivors of Surgical Necrotizing Enterocolitis.

Journal of pediatric surgery
2024

Modulation of intestinal TLR4 expression in infants with neonatal opioid withdrawal syndrome.

Journal of perinatology : official journal of the California Perinatal Association
2024

Point-of-care ultrasound evaluation of suspected necrotizing enterocolitis in the ED.

The American journal of emergency medicine
2024

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Indian journal of pediatrics
2023

The autoinflammation-associated NLRC4V341A mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.

Frontiers in immunology
2023

Hydropneumothorax in a neonate caused by esophageal rupture with duodenal obstruction.

Pediatrics international : official journal of the Japan Pediatric Society
2024

Cystic fibrosis transmembrane conductance regulator modulator administration to a F508del heterozygous infant with meconium pseudocyst and short bowel syndrome: A case report.

Pediatric pulmonology
2024

Yellow Nail Syndrome: Analysis of 23 Consecutive Patients and Effect of Combined Fluconazole-Vitamin-E Treatment.

Dermatology (Basel, Switzerland)
2024

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 obstetrics
2024

Small 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 nutrition
2023

Parenteral support and micronutrient deficiencies in children with short bowel syndrome: A comprehensive retrospective study.

Clinical nutrition ESPEN
2024

Nutritional and health effects of bovine colostrum in neonates.

Nutrition reviews
2024

Intractable 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 Liver
2023

Congenital Diarrhoea In A Neonate With Hypernatraemia And Dehydration.

JPMA. The Journal of the Pakistan Medical Association
2024

Paraventricular thalamus-insular cortex circuit mediates colorectal visceral pain induced by neonatal colonic inflammation in mice.

CNS neuroscience &amp; therapeutics
2024

Generation and characterization of Chd7-iCreERT2-tdTomato mice.

Genesis (New York, N.Y. : 2000)
2024

Modulation of Intestinal Motility in an Adolescent Rat Model of Irritable Bowel Syndrome.

Digestion
2024

Baizhu 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 phytopharmacology
2024

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.

Developmental biology
2024

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

Pediatric dermatology
2023

Longitudinal Follow-Up of Children With HLHS and Association Between Norwood Shunt Type and Long-Term Outcomes: The SVR III Study.

Circulation
2023

Incidence 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 pediatrics
2023

Effects of Milrinone on Neonates after Patent Ductus Arteriosus Ligation: A Retrospective Nationwide Database Study.

Neonatology
2023

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.

Frontiers in endocrinology
2023

Report and follow-up on two new patients with congenital mesoblastic nephroma.

Italian journal of pediatrics
2023

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency.

Pediatric rheumatology online journal
2023

SLAB51 Multi-Strain Probiotic Formula Increases Oxygenation in Oxygen-Treated Preterm Infants.

Nutrients
2023

Case of split notochord syndrome: a neonate with thoracic neuroenteric cyst, abdominal duodenal duplication cyst, malrotation and vertebral anomalies.

BMJ case reports
2023

Human 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 Association
2024

Neonatal 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 Kinderchirurgie
2023

Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.

Pediatric annals

Associações

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Doenças 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.

  1. 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
  2. Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.
    PloS one· 2026· PMID 41770776mais citado
  3. Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
    BMJ case reports· 2026· PMID 41720498mais citado
  4. A Glutamatergic Medial Prefrontal Cortex-Locus Coeruleus Circuit Drives Intestinal Dysmotility in Diarrhea-Predominant Irritable Bowel Syndrome.
    International journal of molecular sciences· 2026· PMID 41596331mais citado
  5. Cluster-randomized evaluation of neonatal intensive care unit quality improvement interventions in extremely preterm infants: secondary analysis of the INTACT trial.
    BMC pediatrics· 2026· PMID 41491468mais citado
  6. Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.
    Pediatr Dermatol· 2026· PMID 40968583recente
  7. 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.
    J Dermatol· 2025· PMID 40040597recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:294023(Orphanet)
  2. MONDO:0017411(MONDO)
  3. GARD:17355(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Doença inflamatória do intestino e da pele neonatal

ORPHA:294023 · MONDO:0017411
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
D84.8 · Outras imunodeficiências especificadas
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
UMLS
C4751120
Repurposing
3 candidatos
aminosalicylatecyclooxygenase inhibitor
chloroxineopioid receptor antagonist
mesalazinecyclooxygenase inhibitor|lipoxygenase inhibitor|prostanoid receptor antagonist
Wikidata
Papers 10a
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