Parana hard skin syndrome
historical
Synonyms: Hard skin syndrome, Parana type
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parana hard skin syndrome | Hard skin syndrome, Parana type |
| fr | Syndrome de Parana | Syndrome de la peau rigide type Parana |
| de | Parana-Syndrom | Parana hard-skin-Syndrome |
| es | Síndrome de la piel rígida de Parana | Síndrome de Parana |
| it | Sindrome della cute rigida del Parana | Sindrome della cute rigida, tipo Parana |
| nl | Parana-hardehuidsyndroom | Hardehuidsyndroom, Parana-type |
| pt | Síndrome de pele dura de Parana | Síndrome de pele dura, tipo Parana |
| pl | Parański zespół twardej skóry | Zespół twardej skóry, typu Parana |
| cs | Syndrom tvrdé kůže, typ Paraná | = en |
| uk | Синдром жорсткої шкіри Парана | Синдром жорсткої шкіри, тип Парана |
| zh | Parana硬皮综合征 | 硬皮综合征，Parana型 |
| tr | Parana sert cilt sendromu | Sert cilt sendromu, Parana tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260530 | E | validated | |
| ICD-10 | L91.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0009838 | E | validated | |
| MeSH | C564905 | E | validated | |
| UMLS | C1850079 | E | validated | |
| GARD | 2598 | 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:79385Unclassified genetic skin disorder
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 | 8 cases | Worldwide | Case(s) | Validated | 4129896[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4129896[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0001510 | Growth delay | |
| HP:0006596 | Restricted chest movement | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0002093 | Respiratory insufficiency | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0002230 | Generalized hirsutism | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0000311 | Round face | |
| HP:0004322 | Short stature | |
| HP:0006610 | Wide intermamillary distance | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2812
- This record as JSON: /data/d/2812.json