ORPHA:79501
Punctate palmoplantar keratoderma type 1
Synonyms: Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type · PPKP1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Punctate palmoplantar keratoderma type 1 | Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type · PPKP1 |
| fr | Kératodermie palmoplantaire ponctuée type 1 | Syndrome de Buschke-Fischer-Brauer · KPPP1 · PPKP1 |
| de | Palmoplantarkeratose, punktierte, Typ I | Buschke-Fischer-Brauer-Syndrom · PPKP1 |
| es | Queratodermia palmoplantar punctata tipo 1 | PPKP1 · Queratodermia palmoplantar papulosa tipo Buschke-Fischer-Brauer · Síndrome de Buschke-Fischer-Brauer |
| it | Cheratoderma palmoplantare puntato tipo 1 | Cheratoderma palmoplantare papuloso, tipo Buschke-Fischer-Brauer · PPKP1 · Sindrome di Buschke-Fischer-Brauer |
| nl | Puntvormige palmoplantaire keratodermie type 1 | Keratoderma palmoplantaris punctata type 1 · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer-type · PPKP1 · Syndroom van Buschke-Fischer-Brauer |
| pt | Queratodermia palmoplantar punctiforme tipo 1 | PPKP1 · Síndrome Buschke-Fischer-Brauer |
| pl | Punktowy rogowiec dłoniowo-podeszwowy typu 1 | Pęcherzykowy rogowiec dłoni i stóp, typ Buschke, Fischera i Brauera · PPKP1 · Zespół Buschke, Fischera i Brauera |
| cs | Keratoderma palmoplantaris punctata, typ 1 | PPKP1 · Buschkeho-Fischerův-Brauerův syndrom · Keratodermia palmoplantaris papulosa, Buschkeho-Fischerův-Brauerův typ · Buschke-Fischer-Brauerův syndrom · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauerův typ |
| uk | Точкова долонно-підошовна кератодермія, тип 1 | Синдром Бушке-Фішера-Брауера · Папульозна кератодермія долонь, тип Бушке-Фішера-Брауера · PPKP1 |
| zh | 点状掌跖角皮病1型 | 点状掌跖角皮病，Buschke-Fischer-Brauer型 |
| tr | Punktat palmoplantar keratoderma tip 1 | PPKP1 · Buschke-Fischer-Brauer sendromu · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148600 | BTNT | validated | |
| OMIM | 614936 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | index | validated |
| MONDO | 0019332 | E | validated | |
| MeSH | C536161 | E | validated | |
| UMLS | C1835662 | E | validated | |
| GARD | 3103 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2338Isolated punctate palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL14A1 | Candidate gene tested in | Not yet assessed | HGNC:2191 | ENSG00000187955 | 120324 | 8q24.12 | collagen type XIV alpha 1 chain | 22972947[PMID] |
| AAGAB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25662 | ENSG00000103591 | 614888 | 15q23 | alpha and gamma adaptin binding protein | 23000146[PMID]_23064416[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 437 cases | Worldwide | Case(s) | Validated | 34535911[PMID]_EXPERT | |
| Point prevalence | 1-9 / 100 000 | 1.17 / 100 000 | Croatia | Value and class | Validated | 8349860[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Slovenia | Value and class | Validated | 19784524[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.22 / 100 000 | Europe | Value and class | 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.
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HPO phenotypes
25 annotations · validated 2021-08-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011124 | Abnormality of epidermal morphology | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0025092 | Epidermal acanthosis | |
| HP:0025114 | Hypergranulosis | |
| HP:0040162 | Orthokeratosis | |
| Occasional (29-5%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0002861 | Melanoma | |
| HP:0012531 | Pain | |
| HP:0012500 | Verrucous papule | |
| Very rare (<4-1%) | ||
| HP:0040276 | Adenocarcinoma of the colon | |
| HP:0040274 | Adenocarcinoma of the small intestine | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0030692 | Brain neoplasm | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0008404 | Nail dystrophy | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0012125 | Prostate cancer | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0012126 | Stomach cancer | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26608363[PMID]_23064416[PMID]_31762743[PMID]_31526046[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79501
- This record as JSON: /data/d/79501.json