Dermatitis herpetiformis

Summary

Dermatitis herpetiformis (MONDO:0015614) is a disease and 5 clinical trials. 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: 1-5 / 10 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 26
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

11 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	27	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.9	Italy	Validated
Annual incidence	1-9 / 100 000	1.5	Ireland	Validated
Annual incidence	1-9 / 100 000	1.1	Sweden	Validated
Annual incidence	1-9 / 1 000 000	0.98	United States	Validated
Annual incidence	1-9 / 100 000	3.5	Finland	Validated
Point prevalence	1-5 / 10 000	17.6	Ireland	Validated
Point prevalence	1-5 / 10 000	11.2	United States	Validated
Point prevalence	6-9 / 10 000	75.3	Finland	Validated
Point prevalence	1-5 / 10 000	11.5	United Kingdom	Validated
Point prevalence	1-5 / 10 000	21	Sweden	Not yet validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000989	Pruritus	Very frequent (80-99%)
HP:0001025	Urticaria	Very frequent (80-99%)
HP:0001935	Microcytic anemia	Very frequent (80-99%)
HP:0002024	Malabsorption	Very frequent (80-99%)
HP:0002757	Recurrent fractures	Very frequent (80-99%)
HP:0002960	Autoimmunity	Very frequent (80-99%)
HP:0008066	Abnormal blistering of the skin	Very frequent (80-99%)
HP:0010783	Erythema	Very frequent (80-99%)
HP:0012538	Gluten intolerance	Very frequent (80-99%)
HP:0012733	Macule	Very frequent (80-99%)
HP:0200037	Skin vesicle	Very frequent (80-99%)
HP:0000964	Eczematoid dermatitis	Frequent (30-79%)
HP:0033565	Anti-epidermal transglutaminase antibody positivity	Frequent (30-79%)
HP:0033637	Anti-endomysial antibody positivity	Frequent (30-79%)
HP:4000026	Anti-transglutaminase 6 antibody	Frequent (30-79%)
HP:4000029	Antigliadin antibody positivity	Frequent (30-79%)
HP:4000030	Anti-reticulin antibody positivity	Frequent (30-79%)
HP:4000031	Anti-type VII collagen antibody	Frequent (30-79%)
HP:0000684	Delayed eruption of teeth	Occasional (5-29%)
HP:0000820	Abnormality of the thyroid gland	Occasional (5-29%)
HP:0000969	Edema	Occasional (5-29%)
HP:0002653	Bone pain	Occasional (5-29%)
HP:0009722	Dental enamel pits	Occasional (5-29%)
HP:0100725	Lichenification	Occasional (5-29%)
HP:0000707	Abnormality of the nervous system	Very rare (<1-4%)
HP:0031446	Erosion of oral mucosa	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	dermatitis herpetiformis
Mondo ID	MONDO:0015614
EFO	EFO:1000684
MeSH	D003874
Orphanet	1656
DOID	DOID:8505
ICD-10-CM	L13.0
ICD-11	286313127
NCIT	C26742
SNOMED CT	111196000
UMLS	C0011608
MedGen	8327
GARD	0010075
MedDRA	10012468
Is cancer (heuristic)	no

Also known as: dermatitis herpetiformis · Duhring’s disease · Durhing-Brocq disease

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › autoimmune bullous skin disease › dermatitis herpetiformis

Related subtypes (10): pemphigus, subcorneal pustular dermatosis, anti-p200 pemphigoid, mucous membrane pemphigoid, acquired epidermolysis bullosa, linear IgA Dermatosis, paraneoplastic pemphigus, bullous pemphigoid, IgA pemphigus, pemphigoid

Subtypes (2): juvenile dermatitis herpetiformis, dermatitis herpetiformis, familial

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

5 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cortisone Acetate	Approved (phase 4)
Dapsone	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Prednisolone	Approved (phase 4)
Prednisone	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE4	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01115244	PHASE4	TERMINATED	Use of Dapsone Gel, 5% for Treating Dermatitis Herpetiformis
NCT00962182	PHASE1/PHASE2	COMPLETED	Study of Enzyme Supplements to Treat Celiac Disease
NCT05597904	Not specified	RECRUITING	Background of Different Phenotypes of Coeliac Disease
NCT05998291	Not specified	ENROLLING_BY_INVITATION	Dermatitis Herpetiformis Refractory to Gluten Free Diet
NCT01952275	Not specified	UNKNOWN	Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases