Bullous pyoderma gangrenosum
Synonyms: Phemphigoid 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 disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bullous pyoderma gangrenosum | Phemphigoid pyoderma gangrenosum |
| fr | Pyoderma gangrenosum, type bulleux | Pyoderma gangrenosum, type atypique |
| de | Pyoderma gangraenosum, bullöses | Pyoderma gangraenosum, pemphigoides |
| es | Pioderma gangrenoso ampolloso | Pioderma gangrenoso penfigoide |
| it | Pioderma gangrenoso bolloso | |
| nl | Bulleuze pyoderma gangrenosum | Pemfigoïde pyoderma gangrenosum |
| pt | Pioderma gangrenoso bulhoso | |
| pl | Piodermia pęcherzowa zgorzelinowa | = en |
| cs | Bulózní pyoderma gangrenosum | Pemfigoidní pyoderma gangrenosum |
| uk | Бульозна гангренозна піодермія | Фемфігоїдна гангренозна піодермія |
| zh | 大疱性坏疽性脓皮病 | = en |
| tr | Büllöz piyoderma gangrenozum | Pemfigoid 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 | 0035237 | E | validated | |
| UMLS | C0406687 | 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/538869
- This record as JSON: /data/d/538869.json