ORPHA:221
Dermatomyositis
Synonyms: Adult dermatomyositis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermatomyositis | Adult dermatomyositis |
| fr | Dermatomyosite | Dermatomyosite de l'adulte |
| de | Dermatomyositis | DM · Dermatomyositis, adulte |
| es | Dermatomiositis | Dermatomiositis del adulto |
| it | Dermatomiosite | DM |
| nl | Dermatomyositis | Volwassen dermatomyositis |
| pt | Dermatomiosite | |
| pl | Zapalenie skórno-mięśniowe | DM |
| cs | Dermatomyozitida | DM |
| uk | Дерматоміозит | Дерматоміозит у дорослих |
| zh | 皮肌炎 | 成人皮肌炎 |
| tr | Dermatomiyozit | Erişkin dermatomiyozit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M33.0 | NTBT | attributed | validated |
| ICD-10 | M33.1 | NTBT | attributed | validated |
| ICD-11 | 4A41.00 | E | specific | validated |
| MONDO | 0016367 | E | validated | |
| MeSH | D003882 | E | validated | |
| UMLS | C0011633 | E | validated | |
| GARD | 6263 | E | validated | |
| MedDRA | 10012503 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98482Idiopathic inflammatory myopathy
rare neurological diseases; rare systemic and rheumatological diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:290836Systemic disease with skin involvement
rare skin diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
14 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Australia | Value and class | Validated | 23981756[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.97 / 100 000 | Australia | Value and class | Validated | 23981756[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.32 / 100 000 | Argentina | Value and class | Validated | 23965482[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.2 / 100 000 | Argentina | Value and class | Validated | 23965482[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.49 / 100 000 | Spain | Value and class | Validated | 18053482[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.1 / 100 000 | United States | Value and class | Validated | 34549549[PMID] |
| Point prevalence | 1-5 / 10 000 | 13 / 100 000 | United States | Value and class | Validated | 34549549[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.9172 / 100 000 | Norway | Value and class | Validated | 24695011[PMID]_ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.32 / 100 000 | Sweden | Value and class | Validated | 28160487[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.8 / 100 000 | Sweden | Value and class | Validated | 28160487[PMID] |
| Annual incidence | 1-9 / 100 000 | 3.5 / 100 000 | Germany | Value and class | Validated | 36581896[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.3 / 100 000 | Germany | Value and class | Validated | 36581896[PMID] |
| Annual incidence | 1-9 / 100 000 | 0.9704 / 100 000 | Worldwide | Value and class | Validated | 36581896[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 7.5312 / 100 000 | Worldwide | Value and class | Validated | 36581896[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
76 annotations · validated 2026-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0000969 | Edema | |
| HP:0010783 | Erythema | |
| HP:0009071 | Inflammatory myopathy | |
| HP:0003325 | Limb-girdle muscle weakness | Diagnostic criterion |
| HP:0003326 | Myalgia | |
| HP:0100539 | Periorbital edema | |
| HP:0003701 | Proximal muscle weakness | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001063 | Acrocyanosis | |
| HP:0034140 | Anti-SUMO-activating enzyme subunit 1 antibody positivity | |
| HP:0034141 | Anti-SUMO-activating enzyme subunit 2 antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations | |
| HP:0003458 | EMG: myopathic abnormalities | Diagnostic criterion |
| HP:0012544 | Elevated circulating aldolase concentration | Diagnostic criterion |
| HP:0003236 | Elevated circulating creatine kinase concentration | Diagnostic criterion |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Diagnostic criterion |
| HP:0001041 | Facial erythema | |
| HP:0012378 | Fatigue | |
| HP:0025508 | Gottron's papules | Pathognomonic sign |
| HP:0040324 | Heliotrope rash | Pathognomonic sign |
| HP:0001252 | Hypotonia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | Diagnostic criterion |
| HP:0100614 | Myositis | Diagnostic criterion |
| HP:0200034 | Papule | |
| HP:0033425 | Periungual erythema | |
| HP:0000989 | Pruritus | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | Diagnostic criterion |
| HP:0025535 | Shawl sign | |
| HP:0000988 | Skin rash | Diagnostic criterion |
| HP:0200042 | Skin ulcer | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0033033 | Anti-MDA5 antibody positivity | |
| HP:0033554 | Anti-Mi2 antibody positivity | |
| HP:0034139 | Anti-SUMO-activating enzyme antibody positivity | |
| HP:0034152 | Anti-histidyl tRNA synthetase antibody positivity | |
| HP:0034142 | Anti-nuclear matrix protein-2 antibody positivity | |
| HP:0034105 | Anti-transcription intermediary factor-1gamma antibody positivity | |
| HP:0011675 | Arrhythmia | |
| HP:0025520 | Calcinosis cutis | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0002015 | Dysphagia | Diagnostic criterion |
| HP:0001618 | Dysphonia | |
| HP:0003457 | EMG abnormality | Diagnostic criterion |
| HP:0000282 | Facial edema | |
| HP:0001945 | Fever | |
| HP:0100758 | Gangrene | |
| HP:0430033 | Gottron sign | Pathognomonic sign |
| HP:6000006 | Holster sign | |
| HP:6001013 | Mechanic's hands | |
| HP:0001658 | Myocardial infarction | |
| HP:0012819 | Myocarditis | |
| HP:0001701 | Pericarditis | |
| HP:0025555 | Periungual teleangiectasia | |
| HP:0001029 | Poikiloderma | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0011703 | Sinus tachycardia | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0025536 | V-sign | |
| HP:0002633 | Vasculitis | |
| Very rare (<4-1%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0030078 | Lung adenocarcinoma | |
| HP:0002665 | Lymphoma | |
| HP:0100630 | Neoplasia of the nasopharynx | |
| HP:0002664 | Neoplasm | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0012490 | Panniculitis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 32644343[PMID]_31279808[PMID]_29550929[PMID]_40535138 [PMID]_37153943[PMID]_42074677[PMID]_38918941[PMID]_34447769[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221
- This record as JSON: /data/d/221.json