Palmoplantar keratoderma-spastic paralysis syndrome
historical
Synonyms: Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- historical
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma-spastic paralysis syndrome | Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome |
| fr | Syndrome de kératodermie palmoplantaire-spasticité | Syndrome d'hyperkératose palmoplantaire-spasticité · Syndrome de Powell-Venencie-Gordon |
| de | Palmoplantarkeratose-spastische Paralyse-Syndrom | Palmoplantare Hyperkeratose-spastische Paralyse-Syndrom · Powell-Venencie-Gordon-Syndrom |
| es | Síndrome de queratodermia palmoplantar-parálisis espástica | Síndrome de Powell-Venencie-Gordon · Síndrome de hiperqueratosis palmoplantar-parálisis espástica |
| it | Sindrome da cheratoderma palmoplantare e paralisi spastica | Sindrome di Powell-Venencie-Gordon · Sindrome ipercheratosi palmoplantare-paralisi spastica |
| nl | Palmoplantaire keratodermie - spastische paralyse-syndroom | Hyperkeratose van handpalm of voetzool - spastische verlamming-syndroom · Keratodermie van handpalm of voetzool - spastische verlamming-syndroom · Palmoplantaire hyperkeratose - spastische verlamming-syndroom · Powell-Venencie-Gordonsyndroom |
| pt | Síndrome de queratodermia palmoplantar-paralisia espástica | Síndrome Powell-Venencie-Gordon |
| pl | Rogowiec dłoni i stóp-zespół porażenia spastycznego | Hiperkeratoza dłoni i stóp-zespół porażenia spastycznego · Zespół Powella, Venencie i Gordona |
| cs | Syndrom zahrnující palmoplantární keratoderma a spastickou paralýzu | Syndrom zahrnující palmoplantární hyperkeratózu a spastickou paralýzu · Powellův-Venencieův-Gordonův syndrom · Powell-Venencie-Gordonův syndrom |
| uk | Синдром долонно-підошовної кератодермїї-спастичного паралічу | Синдром долонно-підошовного гіперкератозу-спастичного паралічу · Синдром Пауелла-Вененсі-Гордона |
| zh | 掌跖角化病-痉挛性麻痹综合征 | 表皮松解性角化过度症-痉挛型瘫痪综合征 |
| tr | Palmoplantar keratoderma-spastik paraliz sendromu | Powell-Venencie-Gordon sendromu · Palmoplantar hiperkeratoz-spastik paraliz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148360 | NTBT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | attributed | validated |
| MONDO | 0016353 | E | validated | |
| MeSH | C538358 | E | validated | |
| UMLS | C2931828 | E | validated | |
| GARD | 3095 | 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:308031Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
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 | 1 families | Worldwide | Family(ies) | Validated | 6227331[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6227331[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 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0003457 | EMG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0010547 | Muscle flaccidity | |
| HP:0007021 | Pain insensitivity | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0002301 | Hemiplegia | |
| HP:0001257 | Spasticity | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2201
- This record as JSON: /data/d/2201.json