PAPASH syndrome
Synonyms: Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PAPASH syndrome | Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome |
| fr | Syndrome PAPASH | Syndrome d'arthrite pyogénique-pyoderma gangrenosum-acné-hidradénite suppurée |
| de | PAPASH-Syndrom | Pyogene Arthritis-Pyoderma gangrenosum-Akne-Hidradenitis suppurativa-Syndrom |
| es | Síndrome PAPASH | Síndrome de artritis piógena-pioderma gangrenoso-acné-hidradenitis supurativa |
| it | Sindrome PAPASH | Sindrome artrite piogenica-pioderma gangrenoso-acne-idrosadenite suppurativa |
| nl | PAPASH-syndroom | Pyogene artritis - pyoderma gangrenosum - acne - hidradenitis suppurativa-syndroom |
| pt | Síndrome PAPASH | Síndrome de artrite piogénica-pioderma gangrenoso-acne-hidradenite supurativa |
| pl | Zespół PAPASH | = en |
| cs | PAPASH syndrom | = en |
| uk | Синдром PAPASH | Піогенний артрит - гангренозна піодермія - акне - гнійний гідраденіт |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L88 | NTBT | attributed | validated |
| ICD-11 | EB21 | NTBT | attributed | validated |
| MONDO | 0958343 | E | validated | |
| MONDO | 958343 | E | validated | |
| UMLS | C5816787 | 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 (2):
- ORPHA:653434Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
rare skin diseases; rare systemic and rheumatological diseases - ORPHA:652510Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 32942279[PMID]_35034021[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32942279[PMID]_35034021[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/641380
- This record as JSON: /data/d/641380.json