neonatal inflammatory skin and bowel disease

MONDO:0017411Mondo

Findings

No curated finding names neonatal inflammatory skin and bowel disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0017411), read 2026-09-29. CC BY 4.0.

Features

18 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Anal fissureHPOHP:0012390
- Frequent (30% to 79% of cases)
BlepharitisHPOHP:0000498
- Frequent (30% to 79% of cases)
Bloody diarrheaHPOHP:0025085
- Frequent (30% to 79% of cases)
Chapped lipHPOHP:0040181
- Frequent (30% to 79% of cases)
Chronic monilial nail infectionHPOHP:0008396
- Frequent (30% to 79% of cases)
ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
Generalized abnormality of skinHPO

Show the remaining 6

PustuleHPOHP:0200039
- Frequent (30% to 79% of cases)
Recurrent bacterial skin infectionsHPOHP:0005406
- Frequent (30% to 79% of cases)
Recurrent gastroenteritisHPOHP:0031123
- Frequent (30% to 79% of cases)
Scaling skinHPOHP:0040189
- Frequent (30% to 79% of cases)
Slow-growing scalp hairHPOHP:0100038
- Frequent (30% to 79% of cases)
Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ADAM17HGNC:195
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: autoinflammatory syndrome
epidermal disease
hereditary disorder of connective tissue
hereditary skin disorder
inflammatory bowel disease
Narrower terms (2): inflammatory skin and bowel disease, neonatal, 1
inflammatory skin and bowel disease, neonatal, 2

Other names

1 name

Resolves to: neonatal inflammatory skin and bowel disease

Also called: inflammatory skin and bowel disease, neonatal