Woolly hair-palmoplantar keratoderma syndrome
Synonyms: KWWH type IV · Keratoderma with woolly hair type IV · Woolly hair-palmoplantar hyperkeratosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Woolly hair-palmoplantar keratoderma syndrome | KWWH type IV · Keratoderma with woolly hair type IV · Woolly hair-palmoplantar hyperkeratosis syndrome |
| fr | Syndrome de cheveux laineux-kératodermie palmoplantaire | KWWH type IV · Kératodermie avec cheveux laineux type IV · Syndrome de cheveux laineux-hyperkératose palmoplantaire |
| de | Wollhaare-Palmoplantarkeratose-Syndrom | KWWH Typ IV · Keratoderm mit Wollhaaren Typ IV · PKK mit Wollhaaren Typ IV · Wollhaare-Palmoplantare Hyperkeratose-Syndrom |
| es | Síndrome de cabello lanoso-queratodermia palmoplantar | KWWH tipo IV · Queratodermia con pelo lanoso tipo IV · Síndrome de pelo lanoso-hiperqueratosis palmoplantar |
| it | Sindrome capelli lanosi-cheratoderma palmoplantare | Cheratoderma con capelli lanosi, tipo IV · KWWH, tipo IV · Sindrome capelli lanosi-ipercheratosi palmoplantare |
| nl | Wollig haar - palmoplantaire keratodermie-syndroom | KWWH type IV · Keratodermie met wollig haar type IV · Wollig haar - palmoplantaire hyperkeratose-syndroom |
| pt | Síndrome de cabelo lanoso-queratodermia palmoplantar | |
| pl | Zespół włosów wełnistych i rogowca dłoniowo-podeszwowego | KWWH typu IV · Rogowiec z włosami wełnistymi typu IV · Zespół włosów wełnistych i hiperkeratozy dłoniowo-podeszwowej |
| cs | Syndrom zahrnující vlnité vlasy a palmoplantární keratoderma | KWWH typ IV · Syndrom zahrnující vlnité vlasy a palmoplantární hyperkeratózu · Keratoderma s vlněnými vlasy, typ IV |
| uk | Синдром вовняного волосся-долонно-підошовної кератодермії | Кератодермія з вовняним волоссям IV типу · KWWH тип IV · Синдром шерстяного волосся-долонно-підошовного гіперкератозу |
| zh | 羊毛状发-掌跖角化综合征 | 羊毛状发-掌跖角化综合征 |
| tr | Yünlü saç-palmoplantar keratoderma sendromu | KWWH tip IV · Keratoderma ile seyreden arapsaçı tip IV · Arapsaçı-palmoplantar hiperkeratoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616099 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | attributed | validated |
| MONDO | 0014492 | E | validated | |
| UMLS | C4706686 | 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:98357Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:434809Syndrome with woolly hair
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KANK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29300 | ENSG00000197256 | 614610 | 19p13.2 | KN motif and ankyrin repeat domains 2 | 24671081[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 24671081[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET_24671081[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420686
- This record as JSON: /data/d/420686.json