Pustular pyoderma gangrenosum
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pustular pyoderma gangrenosum | |
| fr | Pyoderma gangrenosum, type pustuleux | |
| de | Pyoderma gangraenosum, pustulöses | |
| es | Pioderma gangrenoso pustuloso | |
| it | Pioderma gangrenoso pustoloso | |
| nl | Pustuleuze pyoderma gangrenosum | |
| pt | Pioderma gangrenoso pustular | |
| pl | Pioderma krostkowa zgorzelinowa | |
| cs | Pustulární pyoderma gangrenosum | |
| uk | Гнійничкова гангренозна піодермія | |
| zh | 脓疱性坏疽性脓皮病 | |
| tr | Püstüler piyoderma gangrenozum |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L88 | NTBT | attributed | validated |
| ICD-11 | EB21 | NTBT | index | validated |
| MONDO | 0035236 | E | validated | |
| UMLS | C5681317 | 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 (1):
- ORPHA:48104Pyoderma gangrenosum
rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTPN6 | Disease-causing germline mutation(s) in | Assessed | HGNC:9658 | ENSG00000111679 | 176883 | 12p13.31 | protein tyrosine phosphatase non-receptor type 6 | 21406173[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25213386[PMID] |
| Annual incidence | <1 / 1 000 000 | — | Italy | Class only | Validated | ORPHANET_29877043[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538866
- This record as JSON: /data/d/538866.json