ORPHA:659
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Synonyms: Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome · Palmoplantar and periorificial keratoderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome · Palmoplantar and periorificial keratoderma |
| fr | Kératodermie palmoplantaire mutilante avec plaques kératosiques péri-orificielles | Hyperkératose palmoplantaire mutilante avec plaques kératosiques péri-orificielles · Kératodermie palmoplantaire et péri-orificielle · Syndrome d'Olmsted |
| de | Mutilierende Palmoplantarkeratose mit periorifiziellen keratotischen Plaques | Olmsted-Syndrom · Palmoplantare und periorifizielle Keratosen |
| es | Queratodermia palmoplantar mutilante con placas queratósicas periorificiales | Hiperqueratosis palmoplantar mutilante con placas queratósicas periorificiales · Queratodermia palmoplantar y periorificial · Síndrome de Olmsted |
| it | Cheratoderma palmoplantare mutilante con placche cheratosiche periorifiziali | Cheratoderma palmoplantare e periorifiziale · Ipercheratosi palmoplantare mutilante con placche cheratosiche periorifiziali · Sindrome di Olmsted |
| nl | Mutilerende palmoplantaire keratodermie met periorificiale keratotische plaques | Mutilerende hyperkeratose van handpalm of voetzool met periorificiale keratotische plaques · Mutilerende keratodermie van handpalm of voetzool met periorificiale keratotische plaques · Mutilerende palmoplantaire hyperkeratose met periorificiale keratotische plaques · Palmoplantaire en periorificiale keratodermie · Syndroom van Olmsted |
| pt | Queratodermia palmoplantar mutilante com placas queratóticas periorificiais | Síndrome Olmsted |
| pl | Okaleczający rogowiec dłoniowo-podeszwowy z płytkami rogowymi wokół naturalnych otworów ciała | Okaleczająca hiperkeratoza dłoniowo-podeszwowa z płytkami rogowymi wokół naturalnych otworów ciała · Rogowiec dłoniowo-podeszwowy i wokół naturalnych otworów ciała · Zespół Olmsteda |
| cs | Mutilující palmoplantární keratoderma s periorálními keratotickými plaky | Mutilující palmoplantární hyperkeratóza s periorálními keratotickými plaky · Palmoplantární a periorificiální keratoderma · Olmstedův syndrom |
| uk | Мутилююча долонно-підошвова кератодермія з періоральними кератичними бляшками | Калічачий долонно-підошовний гіперкератоз з періорбітальними кератичними бляшками · Синдром Ольмстеда · Пальмоплантарна та періоральна кератодермія |
| zh | 毁损性掌跖角化病伴口周围角化性斑块沉积 | 毁损性掌跖角化过度伴口周围角化性斑块沉积 |
| tr | Periorifisyal keratotik plaklar ile seyreden kötürüm palmoplantar keratoderma | Olmsted sendromu · Palmoplantar ve periorifisyal keratoderma · Palmoplantar hiperkeratozun periorifisyal keratotik plaklarla parçalanması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300918 | BTNT | validated | |
| OMIM | 614594 | BTNT | validated | |
| OMIM | 619208 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0031421 | E | validated | |
| UMLS | C0406761 | E | validated | |
| GARD | 4075 | E | validated | |
| MedDRA | 10068842 | 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 (1):
- ORPHA:307773Autosomal dominant diffuse mutilating palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18084 | ENSG00000167723 | 607066 | 17p13.2 | transient receptor potential cation channel subfamily V member 3 | 22405088[PMID] |
| MBTPS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 22931912[PMID] |
| PERP | Disease-causing germline mutation(s) in | Assessed | HGNC:17637 | ENSG00000112378 | 609301 | 6q23.3 | p53 apoptosis effector related to PMP22 | 30321533[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 73 cases | Worldwide | Case(s) | Validated | 25886873[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
6
HPO phenotypes
23 annotations · validated 2018-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000970 | Anhidrosis | |
| HP:0031013 | Ankylosis | |
| HP:0010783 | Erythema | |
| HP:0007410 | Palmoplantar hyperhidrosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0031057 | Skin fissure | |
| HP:0008070 | Sparse hair | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0000668 | Hypodontia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0001596 | Alopecia | |
| HP:0002861 | Melanoma | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0002797 | Osteolysis | |
| HP:0001250 | Seizure | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659
- This record as JSON: /data/d/659.json