Hereditary sclerosing poikiloderma, Weary type
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sclerosing poikiloderma, Weary type | |
| fr | Poïkilodermie sclérosante héréditaire de Weary | |
| de | Poikilodermie, hereditäre sklerosierende, Typ Weary | |
| es | Poiquilodermia esclerosante hereditaria tipo Weary | |
| it | Poichilodermia sclerosante ereditaria, tipo Weary | |
| nl | Erfelijke scleroserende poikilodermie, Weary-type | |
| pt | Poiquilodermia esclerosante hereditária, tipo Weary | |
| pl | Dziedziczna poikilodermia stwardniająca, typ Weary'ego | |
| cs | Hereditární sklerozující poikilodermie, Wearyho typ | |
| uk | Спадкова склерозуюча пойкилодермія, тип Вері | |
| zh | Weary 型遗传性硬化性皮肤异色病 | |
| tr | Kalıtsal sklerozan poikiloderma, Weary tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173700 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC10 | NTBT | index | validated |
| MONDO | 0008261 | E | validated | |
| UMLS | C1275083 | 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:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 10233244[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10233244[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221039
- This record as JSON: /data/d/221039.json