Palmoplantar keratoderma-deafness syndrome
Synonyms: PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome · Palmoplantar hyperkeratosis-hearing loss syndrome · Palmoplantar keratoderma-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Age of onset
- Childhood
- Status
- active
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma-deafness syndrome | PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome · Palmoplantar hyperkeratosis-hearing loss syndrome · Palmoplantar keratoderma-hearing loss syndrome |
| fr | Syndrome de kératodermie palmoplantaire-surdité | Syndrome KPP-surdité · Syndrome hyperkératose palmoplantaire-surdité |
| de | Palmoplantarkeratose-Schwerhörigkeit-Syndrom | Keratoderma palmoplantaris-Schwerhörigkeit-Syndrom · PPK-Taubheit-Syndrom · Palmoplantare Hyperkeratose-Hörverlust-Syndrom |
| es | Síndrome de queratodermia palmoplantar-sordera | Síndrome PPK-sordera · Síndrome de hiperqueratosis palmoplantar-hipoacusia · Síndrome de hiperqueratosis palmoplantar-sordera · Síndrome de queratodermia palmoplantar-hipoacusia |
| it | Sindrome cheratoderma palmoplantare-sordità | Sindrome PPK-sordità · Sindrome cheratoderma-perdita di udito · Sindrome ipercheratosi palmoplantare-perdita di udito · Sindrome ipercheratosi palmoplantare-sordità |
| nl | Palmoplantaire keratodermie - doofheid-syndroom | Hyperkeratose van handpalm en voetzool - doofheid-syndroom · Keratodermie van handpalm en voetzool - doofheid-syndroom · PPK - doofheid-syndroom · Palmoplantaire hyperkeratose - doofheid-syndroom · Palmoplantaire hyperkeratose - gehoorverlies-syndroom · Palmoplantaire keratodermie - gehoorverlies-syndroom |
| pt | Síndrome de queratodermia palmoplantar-surdez | Síndrome de hiperqueratose palmoplantar-surdez |
| pl | Rogowiec dłoni i stóp z głuchotą | Zespół hiperkeratoza dłoni i stóp - głuchota · Zespół hiperkeratoza dłoni i stóp - utrata słuchu · Zespół PPK-głuchota · Zespół rogowiec dłoni i stóp - utrata słuchu |
| cs | Syndrom zahrnující palmoplantární keratoderma s hluchotou | Syndrom zahrnující PPK a hluchotu · Syndrom zahrnující palmoplantární hyperkeratózu a hluchotu · Syndrom zahrnující palmoplantární hyperkeratózu a ztrátu sluchu · Syndrom zahrnující palmoplantární keratoderma a ztrátu sluchu |
| uk | Синдром долонно-підошовної кератодермії-глухоти | Синдром долонно-підошовного гіперкератозу-глухоти · Синдром долонно-піднебінного гіперкератозу - втрати слуху · Синдром долонно-підошовної кератодермії - втрати слуху · Синдром PPK-глухоти |
| zh | 掌跖角化病- 聋综合征 | 表皮松解性角化过度症-听力损失综合征 |
| tr | Palmoplantar keratoderma-sağırlık sendromu | PPK-sağırlık sendromu · Palmoplantar hiperkeratoz-sağırlık sendromu · Palmoplantar keratoderma-işitme kaybı sendromu · Palmoplantar hiperkeratoz-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148350 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0007852 | E | validated | |
| MeSH | C536152 | E | validated | |
| UMLS | C1835672 | E | validated | |
| GARD | 3094 | 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 (2):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4284 | ENSG00000165474 | 121011 | 13q12.11 | gap junction protein beta 2 | 10633135[PMID]_17993581[PMID] |
| MT-TS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7497 | ENSG00000210151 | 590080 | mitochondria | mitochondrially encoded tRNA-Ser (UCN) 1 | 9450881[PMID]_11069477[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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.
HPO phenotypes
3 annotations · validated 2026-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23675785[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2202
- This record as JSON: /data/d/2202.json