ORPHA:294023
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
Publications
13
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
158
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017411
- UMLS:C4751120
Additional Mondo synonyms (1)
inflammatory skin and bowel disease, neonatal
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
13 matched papers (10 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 488 for broader category inflammatory bowel disease
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
13
13 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
158
Distinct author names in 13 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01A K V1 paper · 2021
Department of Biochemistry, Dr. Kongu Science and Art College, Erode, Tamil Nadu, 638107, India.
Papers in Europe PMC - 02Abreu M1 paper · 2015
Institute for Theoretical Biology (ITB), Charité-Universitätsmedizin Berlin and Humboldt-Universität zu Berlin, Invalidenstraße 43, 10115, Berlin, Germany; Molekulares Krebsforschungszentrum (MKFZ), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.
Papers in Europe PMC - 03Aeschlimann F1 paper · 2023
Department of Paediatric Immunology-Hematology and Rheumatology, Necker University Hospital - APHP, Paris, France.
Papers in Europe PMC - 04Al Shakaki A1 paper · 2023
Department of Genetic Medicine, Weill Cornell Medicine - Qatar, Doha, Qatar.
Papers in Europe PMC - 05Al-Ali MT1 paper · 2021
Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Papers in Europe PMC - 06Ashrafi N1 paper · 2021
Department of Anthropology, Vinoba Bhave University, Hazaribag, Jharkhand, 825301, India.
Papers in Europe PMC - 07B K B1 paper · 2021
CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.
Papers in Europe PMC - 08B M P1 paper · 2021
TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India.
Papers in Europe PMC - 09Bader-Meunier B1 paper · 2023
Department of Paediatric Immunology-Hematology and Rheumatology, Necker University Hospital - APHP, Paris, France.
Papers in Europe PMC - 10Bajaj A1 paper · 2021
CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 488 trials are registered for inflammatory bowel disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
488 interventional trials matched inflammatory bowel disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: inflammatory bowel disease
488
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06788340·NOT YET RECRUITING·MOdel-Informed Precision Dosing of Ustekinumab and VEdolizumab in Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Diseases · Crohn Disease · Ulcerative Colitis·Matched via name phrase
- NCT06961942·NOT YET RECRUITING·Enhancing Endoscopic Scoring Consistency and Accuracy in IBD: a Video-based Training Approach
Conditions: IBD (Inflammatory Bowel Disease)·Matched via name phrase
- NCT06773182·RECRUITING·Assessing Interventions of Diet in IBD
Conditions: IBD (Inflammatory Bowel Disease) · Ulcerative Colitis (UC) · Crohn Disease (CD)·Matched via name phrase
- NCT07165470·RECRUITING·Pre-Packaged Low-Residue Diet Assisting Bowel Preparation in Patients With Inflammatory Bowel Disease
Conditions: Colonoscopy: Bowel Preparation · IBD - Inflammatory Bowel Disease·Matched via name phrase
- NCT06683105·RECRUITING·Clinical Investigation of MYIBDDiet App Developed for Inflammatory Bowel Disease (IBD) Patients to Self-manage Their Diet
Conditions: Inflammatory Bowel Disease (IBD)·Matched via name phrase
- NCT06606808·RECRUITING·Fluorescence Imaging of Risankizumab-800CW in Inflammatory Bowel Disease
Conditions: Ulcerative Colitis (UC) · Crohn Disease (CD)·Matched via name phrase
- NCT07258641·NOT YET RECRUITING·Fluorescence Imaging of Adalimumab-680LT and Risankizumab-800CW in Inflammatory Bowel Disease
Conditions: Ulcerative Colitis (UC) · Crohn Disease (CD)·Matched via name phrase
- NCT06877923·RECRUITING·Elemental 028 Extra Case Studies
Conditions: Gastrointestinal Disease · Inflammatory Bowel Disease (IBD) · Short Bowel · Malabsorption·Matched via name phrase
- NCT02636517·ENROLLING BY INVITATION·Fecal Microbiome Transplant
Conditions: Clostridium Difficile · Inflammatory Bowel Disease · Crohn's Disease · Ulcerative Colitis·Matched via name phrase
- NCT04646187·ENROLLING BY INVITATION·De-escalation of Anti-TNF Therapy in Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Diseases · Crohn Disease · Colitis, Ulcerative·Matched via name phrase
- NCT06938295·RECRUITING·Comparing Diagnostic Accuracy of High-end Intestinal Ultrasound Versus Mid-end Ultrasound With Tandem Ileo-colonoscopy in Inflammatory Bowel Disease : a Paired, Validating Confirmatory Study
Conditions: Inflammatory Bowel Disease (IBD)·Matched via name phrase
- NCT07612267·NOT YET RECRUITING·A Study to Measure Mirikizumab Levels in Breast Milk of Lactating Participants Receiving Mirikizumab Therapeutically for an Approved Indication
Conditions: Lactation · Inflammatory Bowel Disease·Matched via name phrase
- NCT07167836·ENROLLING BY INVITATION·Automated Clinical Pathway for Inflammatory Bowel Disease Care
Conditions: Inflammatory Bowel Disease · Inflammatory Bowel Disease (IBD)·Matched via name phrase
- NCT03615690·RECRUITING·The Influence of a Fasting Mimicking Diet on Ulcerative Colitis
Conditions: Inflammatory Bowel Disease · Diet Modification · Ulcerative Colitis·Matched via name phrase
- NCT07229950·RECRUITING·A Phase 2 Clinical Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of HRS-7085 Tablets in Patients With Inflammatory Bowel Disease
Conditions: Adult Patients With Moderately to Severely Active Ulcerative Colitis·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome" OR "inflammatory skin and bowel disease, neonatal"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome" OR "inflammatory skin and bowel disease, neonatal"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"inflammatory bowel disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:26:24.655Z