Focal palmoplantar and gingival keratoderma
Synonyms: Focal palmoplantar and gingival hyperkeratosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal palmoplantar and gingival keratoderma | Focal palmoplantar and gingival hyperkeratosis |
| fr | Kératodermie palmoplantaire focale et gingivale | Hyperkératose palmoplantaire focale et gingivale |
| de | Fokale palmoplantare und gingivale Keratose | Keratose, fokale gingivale palmoplantare · Palmoplantarkeratose, fokale gingivale |
| es | Queratodermia palmoplantar focal y gingival | Hiperqueratosis palmoplantar focal y gingival |
| it | Cheratoderma focale palmoplantare e gengivale | |
| nl | Focale palmoplantaire en gingivale keratodermie | Focale palmoplantaire en gingivale hyperkeratose |
| pt | Queratodermia palmoplantar focal e da gengiva | Hiperqueratose focal palmoplantar e da gengiva |
| pl | Ogniskowy rogowiec dłoni i stóp oraz dziąseł | Ogniskowa hiperkeratoza dłoni i stóp oraz dziąseł |
| cs | Fokální palmoplantární a gingivální keratoderma | Fokální palmoplantární a gingivální hyperkeratóza |
| uk | Фокальна долонно-підошовна та ясенна кератодермія | Вогнищевий долонно-піднебінний та ясенний гіперкератоз |
| zh | 局灶性掌跖和牙龈角化病 | 局限性掌跖和齿龈角化过度 |
| tr | Fokal palmoplantar ve gingival keratoderma | Fokal palmoplantar ve gingival hiperkeratoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148730 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | attributed | validated |
| MONDO | 0007860 | E | validated | |
| MeSH | C536157 | E | validated | |
| UMLS | C1835650 | E | validated | |
| GARD | 3098 | 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:98353Autosomal dominant disease associated with focal 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 | 17 cases | Worldwide | Case(s) | Validated | 33262878[PMID]_15761417[PMID]_36179229[PMID]_17624145[PMID]_6212891[PMID]_6447853[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33262878[PMID]_15761417[PMID]_36179229[PMID]_17624145[PMID]_6212891[PMID]_6447853[PMID]_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.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008399 | Circumungual hyperkeratosis | |
| HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | |
| HP:0000222 | Gingival hyperkeratosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0008392 | Subungual hyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000975 | Hyperhidrosis | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2200
- This record as JSON: /data/d/2200.json