Localized scleroderma
Synonyms: Localized fibrosing scleroderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized scleroderma | Localized fibrosing scleroderma |
| fr | Sclérodermie localisée | |
| de | Sklerodermie, zirkumskripte | Sklerodermie, fibrosierende zirkumskripte |
| es | Esclerodermia localizada | Esclerodermia fibrosante localizada |
| it | Sclerodermia localizzata | Morfea · Sclerodermia fibrosante localizzata |
| nl | Gelokaliseerde sclerodermie | Gelokaliseerde fibroserende sclerodermie |
| pt | Esclerodermia localizada | |
| pl | Twardzina miejscowa | = en |
| cs | Lokalizovaná forma sklerodermie | Lokalizovaná fibrotizující sklerodermie · Cirkumskriptní sklerodermie |
| uk | Локалізована склеродермія | Локалізована фіброзуюча склеродермія |
| zh | 局限性硬皮病 | 局限性纤维硬皮病 |
| tr | Lokalize skleroderma | Lokalize fibrozan skleroderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L94.0 | E | specific | validated |
| ICD-11 | EB61.0 | E | specific | validated |
| MONDO | 0019562 | E | validated | |
| MeSH | D012594 | E | validated | |
| UMLS | C0036420 | E | validated | |
| GARD | 7058 | E | validated | |
| MedDRA | 10039712 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:801Scleroderma
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
55 annotations · validated 2020-12-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0031359 | Cutaneous sclerotic plaque | |
| HP:0011355 | Localized skin lesion | |
| HP:0030053 | Stiff skin | |
| Occasional (29-5%) | ||
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0004426 | Abnormality of the cheek | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0033127 | Abnormality of the musculoskeletal system | |
| HP:0000177 | Abnormality of upper lip | |
| HP:0000504 | Abnormality of vision | |
| HP:0001369 | Arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0000689 | Dental malocclusion | |
| HP:0010783 | Erythema | |
| HP:0025474 | Erythematous plaque | |
| HP:0000324 | Facial asymmetry | |
| HP:0100537 | Fasciitis | |
| HP:0001371 | Flexion contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002315 | Headache | |
| HP:0011331 | Hemifacial atrophy | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0100876 | Infra-orbital crease | |
| HP:0002076 | Migraine | |
| HP:0003198 | Myopathy | |
| HP:0002232 | Patchy alopecia | |
| HP:0009019 | Progressive loss of facial adipose tissue | |
| HP:0100899 | Sclerosis of finger phalanx | |
| HP:0006336 | Short dental roots | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0000554 | Uveitis | |
| Very rare (<4-1%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0003330 | Abnormal bone structure | |
| HP:0011138 | Abnormality of skin adnexa morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000366 | Abnormality of the nose | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0011675 | Arrhythmia | |
| HP:0000490 | Deeply set eye | |
| HP:0100633 | Esophagitis | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0000520 | Proptosis | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200041 | Skin erosion | |
| HP:0001297 | Stroke | |
| HP:0002633 | Vasculitis | |
| HP:0001045 | Vitiligo | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25672301[PMID]_29687475[PMID]_29875934[PMID]_28271552[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90289
- This record as JSON: /data/d/90289.json