Diffuse palmoplantar keratoderma, Bothnian type
Synonyms: Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnia type · NEPPK, Bothnian type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse palmoplantar keratoderma, Bothnian type | Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnia type · NEPPK, Bothnian type |
| fr | Kératodermie palmoplantaire diffuse type Botnien | KPP non épidermolytique type Botnien |
| de | Diffuse Palmoplantarkeratose vom Bottnischen Typ | Diffuse Palmoplantarkeratodermie, Bottnischer Typ · Keratosis palmoplantaris Typ Bottnien · NEPPK Typ Bottnien · Palmoplantarkeratose, aquagene diffuse, durch AQP5-Genmutation |
| es | Queratodermia palmoplantar difusa tipo Botnia | NEPPK tipo Botnia |
| it | Cheratoderma palmoplantare diffuso tipo botniano | Cheratoderma palmoplantare diffuso tipo Botnia · NEPPK tipo Botnia · NEPPK tipo botniano |
| nl | Diffuse palmoplantaire keratodermie, Botnisch type | Diffuse palmoplantaire keratodermie, Botnië-type · NEPPK, Botnisch type · NEPPK, Botnië-type |
| pt | Queratodermia palmoplantar difusa, tipo Bothniana | NEPPK, tipo Bothnia · NEPPK, tipo Bothniana · Queratodermia palmoplantar difusa, tipo Bothnia |
| pl | Rogowiec dłoni i stóp odmiana nieepidermolityczna | NEPPK · Rozlany rogowiec dłoniowo-podeszwowy, typ botnicki · Autosomalny dominujący rozlany rogowiec dłoni i stóp, typ Norrbotten · Rozlany rogowiec dłoniowo-podeszwowy typu botnickiego |
| cs | Non-epidermolytická palmoplantární keratoderma | NEPPK · Autozomálně dominantní difuzní palmoplantární keratoderma |
| uk | Дифузна долонно-підошовна кератодермія, тип Ботніана | Дифузна долонно-підошовна кератодермія, тип Ботніа · NEPPK, тип Ботнія · NEPPK, ботнійський тип |
| zh | 非表皮松解掌跖角化病 | 常染色体显性遗传弥漫性掌跖角化病Norrbotten型 |
| tr | Epidermolitik olmayan palmoplantar keratoderma | NEPPK · Yaygın palmoplantar keratoderma, Bothnian tipi · Otozomal dominant Yaygın palmoplantar keratoderma, Norrbotten tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600231 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0010849 | E | validated | |
| UMLS | C1838359 | E | validated | |
| GARD | 1862 | 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:98349Autosomal dominant isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AQP5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:638 | ENSG00000161798 | 600442 | 12q13.12 | aquaporin 5 | 23830519[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Not yet 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.
HPO phenotypes
10 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| HP:0000975 | Hyperhidrosis | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0032259 | Chronic tinea infection | |
| HP:0010783 | Erythema | |
| HP:0032541 | Knuckle pad | |
| HP:0200034 | Papule | |
| HP:0000989 | Pruritus | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0001807 | Ridged nail | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30144154[PMID]_27255181[PMID]_23867895[PMID]_35014096[PMID]_36553627[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2337
- This record as JSON: /data/d/2337.json