Eosinophilic fasciitis
Synonyms: Diffuse fasciitis with eosinophilia · Shulman syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eosinophilic fasciitis | Diffuse fasciitis with eosinophilia · Shulman syndrome |
| fr | Fasciite à éosinophiles | Fasciite diffuse avec éosinophilie · Syndrome de Shulman |
| de | Fasziitis, eosinophile | Shulman-Syndrom |
| es | Fascitis eosinofílica | Fascitis difusa con eosinofilia · Síndrome de Shulman |
| it | Fascite eosinofila | Fascite diffusa con eosinofilia · Sindrome di Shulman |
| nl | Eosinofiele fasciitis | Diffuse fasciitis met eosinofilie · Shulmansyndroom |
| pt | Fasceíte eosinofílica | Síndrome Shulman |
| pl | Eozynofilowe zapalenie powięzi | Rozlane zapalenie powięzi z eozynofilią · Zespół Shulmana |
| cs | Eozinofilní fasciitida | Difuzní fasciitida s eozinofilií · Shulmanův syndrom |
| uk | Еозинофільний фасциїт | Дифузний фасцит з еозинофілією · Синдром Шульмана |
| zh | 嗜酸细胞性筋膜炎 | 弥漫性筋膜炎伴嗜酸粒细胞增多 |
| tr | Eozinofilik fasiit | Shulman sendromu · Eozinofili ile yaygın fasiit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226350 | E | validated | |
| ICD-10 | M35.4 | E | specific | validated |
| ICD-11 | 4A43.4 | E | specific | validated |
| MONDO | 0009175 | E | validated | |
| MeSH | C562487 | E | validated | |
| UMLS | C0264005 | E | validated | |
| GARD | 6351 | E | validated | |
| MedDRA | 10014954 | 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 (3):
- ORPHA:98482Idiopathic inflammatory myopathy
rare neurological diseases; rare systemic and rheumatological diseases - ORPHA:90077Other acquired skin disease
rare skin diseases - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.4 / 100 000 | France | Value and class | Validated | 29526049[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001879 | Abnormality of eosinophils | |
| HP:0001063 | Acrocyanosis | |
| HP:0100658 | Cellulitis | |
| HP:0000969 | Edema | |
| HP:0012378 | Fatigue | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0012733 | Macule | |
| HP:0100748 | Muscular edema | |
| HP:0003326 | Myalgia | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| Occasional (29-5%) | ||
| HP:0100537 | Fasciitis | |
| HP:0100614 | Myositis | |
| HP:0003401 | Paresthesia | |
| HP:0001824 | Weight loss | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3165
- This record as JSON: /data/d/3165.json