Vesiculobullous skin disease

Summary

Vesiculobullous skin disease (MONDO:0006617) is a disease (an umbrella term covering 8 Mondo subtypes) with 1 GWAS associations across 4 studies and 5 clinical trials. Top therapeutic interventions include dapsone and tozinameran. A subtype of skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vesiculobullous skin disease
Mondo ID	MONDO:0006617
EFO	EFO:1000774
MeSH	D012872
DOID	DOID:2731
UMLS	C0037275
MedGen	20778
Is cancer (heuristic)	no

Also known as: bullous dermatoses · bullous skin disease · bullous skin diseases · dermatoses, bullous · dermatoses, subcorneal pustular · dermatoses, vesiculobullous · dermatosis, subcorneal pustular · pustular dermatoses, subcorneal · pustular dermatosis, subcorneal · skin disease, bullous · skin disease, vesicular · skin disease, vesiculobullous · skin diseases, bullous · skin diseases, vesicular · Sneddon Wilkinson disease · Sneddon-Wilkinson disease · subcorneal pustular dermatoses · subcorneal pustular dermatosis · vesicular skin disease · vesicular skin diseases (+3 more)

Data availability: 1 GWAS association (4 studies).

Disease family

This is a subtype of skin disorder. 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 › integumentary system disorder › skin disorder › vesiculobullous skin disease

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Subtypes (8): cellulitis, herpes zoster, chickenpox, gas gangrene, epidermolysis bullosa, autoimmune bullous skin disease, eosinophilic pustular folliculitis, papular urticaria

Genetics & variants

GWAS landscape

1 GWAS associations across 4 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6455779	1e-07	PRKN	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473911	UK Biobank Whole-Genome Sequencing Consortium	2025	1,382	457,058	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90482335	Verma A	2024	1,027	449,158	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651884	Liu TY	2025	305	218,583	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436595	Zhou W	2018	141	402,672	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6455779	6	161828667	T>A,C,G	0.05	intron_variant	PRKN	1e-07	Tier 4: intronic/intergenic

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE4	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02550080	PHASE4	UNKNOWN	Clinical Utility Of Genetic Screening For HLA-B*1301, On Susceptibility To Dapsone Hypersensitivity Syndrome
NCT05406908	PHASE4	COMPLETED	Intradermal Tozinameran for Patients With Immune-mediated Dermatologic Diseases
NCT00001150	Not specified	COMPLETED	Induction of Suction Blisters in Patients With Urticaria, Blistering Diseases, Inflammatory Dermatoses and Neoplastic Disorders, and in Normal Volunteers
NCT01952275	Not specified	UNKNOWN	Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
NCT04096222	Not specified	UNKNOWN	Comparative Analysis of the Th17 Cellular Response in Active and Inactive Pemphigus Vulgaris Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DAPSONE	4	1
TOZINAMERAN	4	1