KRT1-related diffuse nonepidermolytic keratoderma
Synonyms: KRT1-related diffuse NEPPK
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KRT1-related diffuse nonepidermolytic keratoderma | KRT1-related diffuse NEPPK |
| fr | Kératodermie palmoplantaire non épidermolytique associée à KRT1 | KPP non épidermolytique associée à KRT1 |
| de | KRT1-assoziierte diffuse nichtepidermolytische Keratose | KRT1-assoziierte diffuse NEPPK |
| es | Queratodermia difusa no epidermolítica asociada a KRT1 | NEPPK difusa asociada a KRT1 |
| it | Cheratoderma diffuso non epidermolitico correlato a KRT1 | |
| nl | KRT1-gerelateerde diffuse niet-epidermolytische keratodermie | KRT1-gerelateerde diffuse NEPPK |
| pt | Queratodermia não-epidermolítica difusa KRT1-relacionada | |
| pl | Rogowiec nie-epidermolityczny rozsiany związany z KRT1 | = en |
| cs | KRT1-vázaná difuzní non-epidermolytická keratoderma | KRT1-vázaná difuzní NEPPK |
| uk | KRT1-залежна дифузна неепідермолітична кератодермія | KRT1-залежна дифузна НЕППК |
| zh | KRT1基因相关弥漫性非表皮松解性皮肤角化病 | = en |
| tr | KRT1-ilişkili diffüz epidermolitik olmayan keratoderma | KRT1-ilişkili yaygın NEPPK |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600962 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | attributed | validated |
| MONDO | 0010962 | E | validated | |
| MONDO | 10962 | E | validated | |
| UMLS | C5680142 | E | validated | |
| GARD | 5186 | 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 |
|---|---|---|---|---|---|---|---|---|
| KRT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 | 29489036[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_30452289[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
15 annotations · validated 2021-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma | |
| Very frequent (99-80%) | ||
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0001551 | Abnormal umbilicus morphology | |
| HP:0000958 | Dry skin | |
| HP:0010783 | Erythema | |
| HP:0012203 | Onychomycosis | |
| Occasional (29-5%) | ||
| HP:0001047 | Atopic dermatitis | |
| HP:0001598 | Concave nail | |
| HP:0006203 | Decreased movement range in interphalangeal joints | |
| HP:0032541 | Knuckle pad | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0025524 | Palmoplantar scaling skin | |
| HP:0040189 | Scaling skin | |
| HP:0032523 | Tendon thickening | |
| HP:0004690 | Thickened Achilles tendon | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 7528239[PMID]_29489036[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530838
- This record as JSON: /data/d/530838.json