Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome | |
| fr | Syndrome d'érythrodermie néonatale-auto-inflammation-maladie inflammatoire de l'intestin | |
| de | Neonatale Erythrodermie-Autoinflammation-entzündliche Darmerkrankung-Syndrom | |
| es | Síndrome neonatal de eritrodermia-autoinflamación-enfermedad inflamatoria intestinal | |
| it | Sindrome eritroderma neonatale-autoinfiammazione-malattia infiammatoria dellintestino | |
| nl | Neonataal erytrodermie - auto-inflammatie - inflammatoire darmziekte-syndroom | |
| pt | Doença inflamatória do intestino e da pele neonatal | |
| pl | Zespół erytrodermii noworodkowej, autozapalenia i choroby zapalnej jelit | |
| cs | Neonatální zánětlivé onemocnění kůže a střev | |
| uk | Неонатальні запальні захворювання шкіри та кишечника | |
| zh | 新生儿炎症性皮肤和肠病 | |
| tr | Yenidoğan iltihaplı deri ve bağırsak hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614328 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A6Y | NTBT | attributed | validated |
| MONDO | 0017411 | E | validated | |
| UMLS | C4751120 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAM17 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:195 | ENSG00000151694 | 603639 | 2p25.1 | ADAM metallopeptidase domain 17 | 22010916[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22010916[PMID]_24691054[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22010916[PMID]_24691054[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2020-06-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012390 | Anal fissure | |
| HP:0000498 | Blepharitis | |
| HP:0025085 | Bloody diarrhea | |
| HP:0040181 | Chapped lip | |
| HP:0008396 | Chronic monilial nail infection | |
| HP:0010783 | Erythema | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0001805 | Onychogryphosis | |
| HP:0410017 | Otitis externa | |
| HP:0011131 | Perianal rash | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0200039 | Pustule | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0040189 | Scaling skin | |
| HP:0100038 | Slow-growing scalp hair | |
| Occasional (29-5%) | ||
| HP:0001712 | Left ventricular hypertrophy | |
Annotation source: 22010916[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294023
- This record as JSON: /data/d/294023.json