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Atlas / Disease / Localized scleroderma

Localized scleroderma

disease
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Also known as circumscribed sclerodermalocalised fibrosing sclerodermalocalised scleroderma (disorder) [ambiguous]localized fibrosing sclerodermalocalized morphoealocalized scleroderma (disorder) [ambiguous]morpheaScleroderma, localisedScleroderma, localized

Summary

Localized scleroderma (MONDO:0019562) is a disease and 23 clinical trials. Top therapeutic interventions include imiquimod, calcipotriene, and crisaborole. A subtype of scleroderma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
  • Phenotypes (HPO): 55
  • Clinical trials: 23

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Point prevalence1-9 / 100 000EuropeValidated

Signs & symptoms

Clinical features (HPO)

55 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO IDTermFrequency
HP:0001072Thickened skinVery frequent (80-99%)
HP:0002829ArthralgiaFrequent (30-79%)
HP:0011355Localized skin lesionFrequent (30-79%)
HP:0030053Stiff skinFrequent (30-79%)
HP:0031359Cutaneous sclerotic plaqueFrequent (30-79%)
HP:0000164Abnormality of the dentitionOccasional (5-29%)
HP:0000177Abnormality of upper lipOccasional (5-29%)
HP:0000324Facial asymmetryOccasional (5-29%)
HP:0000504Abnormality of visionOccasional (5-29%)
HP:0000554UveitisOccasional (5-29%)
HP:0000689Dental malocclusionOccasional (5-29%)
HP:0000953Hyperpigmentation of the skinOccasional (5-29%)
HP:0001053Hypopigmented skin patchesOccasional (5-29%)
HP:0001369ArthritisOccasional (5-29%)
HP:0001371Flexion contractureOccasional (5-29%)
HP:0002020Gastroesophageal refluxOccasional (5-29%)
HP:0002076MigraineOccasional (5-29%)
HP:0002232Patchy alopeciaOccasional (5-29%)
HP:0002315HeadacheOccasional (5-29%)
HP:0002960AutoimmunityOccasional (5-29%)
HP:0003198MyopathyOccasional (5-29%)
HP:0004426Abnormality of the cheekOccasional (5-29%)
HP:0006336Short dental rootsOccasional (5-29%)
HP:0009019Progressive loss of facial adipose tissueOccasional (5-29%)
HP:0010783ErythemaOccasional (5-29%)
HP:0011331Hemifacial atrophyOccasional (5-29%)
HP:0011821Abnormality of facial skeletonOccasional (5-29%)
HP:0025474Erythematous plaqueOccasional (5-29%)
HP:0033127Abnormality of the musculoskeletal systemOccasional (5-29%)
HP:0100537FasciitisOccasional (5-29%)
HP:0100560Upper limb asymmetryOccasional (5-29%)
HP:0100876Infra-orbital creaseOccasional (5-29%)
HP:0100899Sclerosis of finger phalanxOccasional (5-29%)
HP:0000077Abnormality of the kidneyVery rare (<1-4%)
HP:0000366Abnormality of the noseVery rare (<1-4%)
HP:0000490Deeply set eyeVery rare (<1-4%)
HP:0000520ProptosisVery rare (<1-4%)
HP:0000707Abnormality of the nervous systemVery rare (<1-4%)
HP:0000872Hashimoto thyroiditisVery rare (<1-4%)
HP:0001045VitiligoVery rare (<1-4%)
HP:0001250SeizureVery rare (<1-4%)
HP:0001297StrokeVery rare (<1-4%)
HP:0001626Abnormality of the cardiovascular systemVery rare (<1-4%)
HP:0002086Abnormality of the respiratory systemVery rare (<1-4%)
HP:0002384Focal impaired awareness seizureVery rare (<1-4%)
HP:0002633VasculitisVery rare (<1-4%)
HP:0003202Skeletal muscle atrophyVery rare (<1-4%)
HP:0003330Abnormal bone structureVery rare (<1-4%)
HP:0008066Abnormal blistering of the skinVery rare (<1-4%)
HP:0011138Abnormality of skin adnexa morphologyVery rare (<1-4%)

Identifiers

Disease identifiers

FieldValue
Canonical namelocalized scleroderma
Mondo IDMONDO:0019562
EFOEFO:1001361
MeSHD012594
Orphanet90289
DOIDDOID:8472
ICD-10-CML94.0
ICD-111430740369
NCITC72069
SNOMED CT201048007
UMLSC0036420
MedGen48586
GARD0007058
MedDRA10039712
Is cancer (heuristic)no

Also known as: circumscribed scleroderma · localised fibrosing scleroderma · localised scleroderma (disorder) [ambiguous] · localized fibrosing scleroderma · localized morphoea · localized scleroderma · localized scleroderma (disorder) [ambiguous] · morphea · Scleroderma, localised · Scleroderma, localized

Data availability: 6 cell lines.

Disease family

This is a subtype of scleroderma. 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 › connective tissue disorder › rheumatic disorder › scleroderma › localized scleroderma

Related subtypes (2): systemic sclerosis, neonatal scleroderma

Subtypes (2): lipodermatosclerosis, linear scleroderma

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

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
ImiquimodPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Crisaborole, Dupilumab.

Clinical trials & evidence

Clinical trials

Clinical trials: 23.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified13
PHASE23
PHASE32
PHASE1/PHASE22
EARLY_PHASE12
PHASE41

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03630198PHASE4COMPLETEDPain Outcomes Following Intralesional Corticosteroid Injections
NCT00147771PHASE3COMPLETEDImiquimod in Children With Plaque Morphea
NCT00230373PHASE3WITHDRAWNImiquimod 5% Cream in Plaque-type Morphea: A Pilot, Prospective Open-label Study
NCT00129428PHASE1/PHASE2COMPLETEDUltraviolet B (UVB) Light Therapy in the Treatment of Skin Conditions With Altered Dermal Matrix
NCT00479934PHASE2COMPLETEDEfficacy and Safety of Imatinib in Scleroderma
NCT03351114PHASE2COMPLETEDPilot Study Evaluating the Efficacy of a Topical PDE4 Inhibitor for Morphea
NCT03740724PHASE1/PHASE2TERMINATEDA Study of FCX-013 Plus Veledimex for the Treatment of Moderate to Severe Localized Scleroderma (Morphea)
NCT04200755PHASE2COMPLETEDClinical Trial to Evaluate Efficacy and Safety of Dupilumab in Localized Scleroderma
NCT02411643EARLY_PHASE1TERMINATEDMolecular Effects of Topical Calcipotriene on Morphea
NCT04656704EARLY_PHASE1WITHDRAWNHyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease
NCT01808937Not specifiedRECRUITINGMorphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
NCT04922736Not specifiedACTIVE_NOT_RECRUITINGPatient Reported Outcomes With UVA-1 Therapy for Treatment of Sclerosing Skin Diseases
NCT06646146Not specifiedNOT_YET_RECRUITINGStudy on the Efficacy of Autologous Fat Grafting in Improving Hair Transplantation Outcomes for Patients With Localized Scleroderma-Related Alopecia
NCT07182981Not specifiedRECRUITINGPatients Diagnosed With Scleroderma and Their Chewing and Swallowing Performance
NCT07183072Not specifiedRECRUITINGPatients Diagnosed With Scleroderma: Physical Performance and Functionality
NCT07292961Not specifiedRECRUITINGInvestigating the Effectiveness of the Biopsychosocial Model-Based Exercise Approach in Children and Adults Diagnosed With Scleroderma
NCT01697254Not specifiedCOMPLETEDThe CARRA Registry
NCT01799174Not specifiedCOMPLETEDTreatment Study Comparing UVA-1 Phototherapy Versus Placebo Treatment for Morphea
NCT02002897Not specifiedUNKNOWNFractional Carbon Dioxide Laser Versus UVA 1 in Treatment of Localized Scleroderma
NCT02222038Not specifiedCOMPLETEDGenetic Variants in Linear Localized Scleroderma
NCT04752397Not specifiedCOMPLETEDThe Influence of Extracorporeal Photopheresis on Skin Sclerosis
NCT04954573Not specifiedTERMINATEDStudy on the Treatment With Water-filtered Infrared-A (wIRA) Radiation in Patients With Morphea and Sclerotic Graft-versus-host Disease
NCT06621628Not specifiedCOMPLETEDPhotobiomodulation in Children With Localized Scleroderma

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
IMIQUIMOD42
CALCIPOTRIENE41
CRISABOROLE41
VELEDIMEX21

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 24

This page pulls from 24 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardoidefogardgenccgwasgwas_studyhgncicd10cmicd11meddramedgenmeshmimmondomondochildmondoparentncitorphanetsctidumls