Eosinophilic fasciitis

Summary

Eosinophilic fasciitis (MONDO:0009175) is a disease and 4 clinical trials. Top therapeutic interventions include mepolizumab. A subtype of fasciitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 16
• Clinical trials: 4

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1.4	France	Validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0000969	Edema	Very frequent (80-99%)
HP:0001063	Acrocyanosis	Very frequent (80-99%)
HP:0001482	Subcutaneous nodule	Very frequent (80-99%)
HP:0001879	Abnormality of eosinophils	Very frequent (80-99%)
HP:0001880	Eosinophilia	Very frequent (80-99%)
HP:0003326	Myalgia	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0012733	Macule	Very frequent (80-99%)
HP:0100658	Cellulitis	Very frequent (80-99%)
HP:0100748	Muscular edema	Very frequent (80-99%)
HP:0001369	Arthritis	Frequent (30-79%)
HP:0002829	Arthralgia	Frequent (30-79%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0003401	Paresthesia	Occasional (5-29%)
HP:0100537	Fasciitis	Occasional (5-29%)
HP:0100614	Myositis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	eosinophilic fasciitis
Mondo ID	MONDO:0009175
MeSH	C562487
OMIM	226350
Orphanet	3165
ICD-11	1977389237
NCIT	C112116
SNOMED CT	24129002
UMLS	C0264005
MedGen	82673
GARD	0006351
MedDRA	10014954
Is cancer (heuristic)	no

Also known as: diffuse fasciitis with eosinophilia · EF · eosinophilic fasciitis · eosinophilic fasciitis (disease) · Shulman syndrome

Data availability: 1 HPO phenotype · 1 cell line.

Disease family

This is a subtype of fasciitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › fasciitis › eosinophilic fasciitis

Related subtypes (5): nodular fasciitis, proliferative fasciitis, plantar fasciitis, ischemic fasciitis, necrotizing fasciitis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04305678	PHASE1	WITHDRAWN	Mepolizumab for Eosinophilic Fasciitis
NCT07348263	Not specified	RECRUITING	EFESO: Study on Juvenile Onset Eosinophilic Fasciitis
NCT04752397	Not specified	COMPLETED	The Influence of Extracorporeal Photopheresis on Skin Sclerosis
NCT05915585	Not specified	UNKNOWN	High-Intensity Laser Therapy for Eosinophilic Fasciitis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
MEPOLIZUMAB	4	1