Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

neonatal inflammatory skin and bowel disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal inflammatory skin and bowel disease

MONDO:0017411

Also known as:inflammatory skin and bowel disease, neonatal

Overview

Neonatal 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, failure to thrive 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.

OnsetNEONATAL, INFANTILE, CHILDHOOD

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Blepharitis, Onychogryphosis, Psoriasiform dermatitis, and Recurrent bacterial skin infections and others; and sometimes findings: Thickened left heart wall (left ventricular hypertrophy).

Organ System	Phenotype Count	Example Features
Skin	7	Psoriasiform dermatitis, Recurrent bacterial skin infections, Chronic monilial nail infection

Diagnosis

Biomarker and diagnostic research for neonatal inflammatory skin and bowel disease has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal inflammatory skin and bowel disease.

8 publications have been identified in PubMed for neonatal inflammatory skin and bowel disease. Research spans Case Report / Case Series (38%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Recent Publications

Malhi K (2026). [PMID: 42015567](https://pubmed.ncbi.nlm.nih.gov/42015567/). *Pediatr Dermatol*. [Case Report / Case Series]
Karabinos A (2025). [PMID: 40040597](https://pubmed.ncbi.nlm.nih.gov/40040597/). *The Journal of dermatology*. [Case Report / Case Series]
Chang HR (2025). [PMID: 40968583](https://pubmed.ncbi.nlm.nih.gov/40968583/). *Pediatric dermatology*. [Case Report / Case Series]
Negera A (2025). [PMID: 39910213](https://pubmed.ncbi.nlm.nih.gov/39910213/). *Sci Rep*. [Epidemiology / Natural History]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:294023

GARD

Genetic and Rare Diseases Info Center

GARD:17355

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

neonatal inflammatory skin and bowel disease

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features