ORPHA:48104
Pyoderma gangrenosum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare inflammatory neutrophilic dermatosis characterized by painful cutaneous ulcerations with a violaceous and undermined border affecting the lower extremities; however, any hair-bearing area can be affected.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyoderma gangrenosum | |
| fr | Pyoderma gangrenosum | Pyodermite phagédénique |
| de | Pyoderma gangraenosum | |
| es | Pioderma gangrenoso | |
| it | Pioderma gangrenoso | |
| nl | Pyoderma gangrenosum | |
| pt | Piodermia gangrenosa | |
| pl | Piodermia zgorzelinowa | |
| cs | Pyoderma gangrenosum | |
| uk | Гангренозна піодермія | |
| zh | 坏疽性脓皮病 | |
| tr | Piyoderma gangrenozum |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L88 | E | specific | validated |
| ICD-11 | EB21 | E | specific | validated |
| MONDO | 0018824 | E | validated | |
| MeSH | D017511 | E | validated | |
| UMLS | C0085652 | E | validated | |
| GARD | 7510 | E | validated | |
| MedDRA | 10037635 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
4
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PTPN6 | ORPHA:538863Classic pyoderma gangrenosum | Disease-causing germline mutation(s) in | Assessed | HGNC:9658 | ENSG00000111679 | 176883 | 12p13.31 | protein tyrosine phosphatase non-receptor type 6 | 21406173[PMID] |
| PTPN6 | ORPHA:538866Pustular pyoderma gangrenosum | Disease-causing germline mutation(s) in | Assessed | HGNC:9658 | ENSG00000111679 | 176883 | 12p13.31 | protein tyrosine phosphatase non-receptor type 6 | 21406173[PMID] |
| PTPN6 | ORPHA:538869Bullous pyoderma gangrenosum | Disease-causing germline mutation(s) in | Assessed | HGNC:9658 | ENSG00000111679 | 176883 | 12p13.31 | protein tyrosine phosphatase non-receptor type 6 | 21406173[PMID] |
| PTPN6 | ORPHA:538872Vegetative pyoderma gangrenosum | Disease-causing germline mutation(s) in | Assessed | HGNC:9658 | ENSG00000111679 | 176883 | 12p13.31 | protein tyrosine phosphatase non-receptor type 6 | 21406173[PMID] |
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Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | ISBN:978-1-60831-581-9[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.91 / 100 000 | United Kingdom | Value and class | Validated | 22534879[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25213386[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.33 / 100 000 | Spain | Value and class | Validated | 21782147[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.74 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_21782147[PMID]_22534879[PMID]_ISBN:978-1-60831-581-9[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.517 / 100 000 | Italy | Value and class | Validated | 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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001945 | Fever | |
| HP:0003326 | Myalgia | |
| HP:0100614 | Myositis | |
| HP:0200034 | Papule | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0001075 | Atrophic scars | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0002863 | Myelodysplasia | |
| HP:0012324 | Myeloid leukemia | |
| HP:0200039 | Pustule | |
| HP:0001370 | Rheumatoid arthritis | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0200037 | Skin vesicle | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26060412[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48104
- This record as JSON: /data/d/48104.json