Subcorneal pustular dermatosis
disease diseaseOn this page
Also known as pustulosis subcornealisSneddon-Wilkinson diseasesubcorneal pustular dermatitis
Summary
Subcorneal pustular dermatosis (MONDO:0006614) is a disease and 1 clinical trial. A subtype of autoimmune bullous skin disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 11
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 200 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000953 | Hyperpigmentation of the skin | Very frequent (80-99%) |
| HP:0010783 | Erythema | Very frequent (80-99%) |
| HP:0200039 | Pustule | Very frequent (80-99%) |
| HP:0000989 | Pruritus | Frequent (30-79%) |
| HP:0000821 | Hypothyroidism | Occasional (5-29%) |
| HP:0000836 | Hyperthyroidism | Occasional (5-29%) |
| HP:0001370 | Rheumatoid arthritis | Occasional (5-29%) |
| HP:0002725 | Systemic lupus erythematosus | Occasional (5-29%) |
| HP:0002960 | Autoimmunity | Occasional (5-29%) |
| HP:0006775 | Multiple myeloma | Occasional (5-29%) |
| HP:0010702 | Increased circulating antibody level | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | subcorneal pustular dermatosis |
| Mondo ID | MONDO:0006614 |
| EFO | EFO:1000771 |
| Orphanet | 48377 |
| DOID | DOID:8508 |
| ICD-10-CM | L13.1 |
| ICD-11 | 1952122675 |
| SNOMED CT | 25147002 |
| UMLS | C0600336 |
| MedGen | 108687 |
| GARD | 0013606 |
| MedDRA | 10042342 |
| Is cancer (heuristic) | no |
Also known as: pustulosis subcornealis · Sneddon-Wilkinson disease · subcorneal pustular dermatitis · subcorneal pustular dermatosis
Disease family
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › autoimmune bullous skin disease › subcorneal pustular dermatosis
Related subtypes (10): pemphigus, dermatitis herpetiformis, anti-p200 pemphigoid, mucous membrane pemphigoid, acquired epidermolysis bullosa, linear IgA Dermatosis, paraneoplastic pemphigus, bullous pemphigoid, IgA pemphigus, pemphigoid
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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01952275 | Not specified | UNKNOWN | Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.