Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Synonyms: Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome |
| fr | Syndrome de fragilité cutanée-cheveux laineux-kératodermie palmoplantaire | Syndrome de fragilité cutanée-cheveux laineux-hyperkératose palmoplantaire |
| de | Fragile Haut-Wollhaare-Palmoplantarkeratose-Syndrom | |
| es | Síndrome de piel frágil-cabello lanoso-queratodermia palmoplantar | Síndrome de piel frágil-cabello lanoso-hiperqueratosis palmoplantar |
| it | Sindrome da fragilità cutanea, capelli lanosi e cheratoderma palmoplantare | Sindrome fragilità cutanea-capelli lanosi-ipercheratosi palmoplantare |
| nl | Huidfragiliteit - wollig haar - palmoplantaire keratodermie-syndroom | Huidfragiliteit - wollig haar - palmoplantaire hyperkeratose-syndroom |
| pt | Síndrome de fragilidade cutânea-cabelo lanoso-queratodermia palmoplantar | |
| pl | Zespół krucha skóra-włosy wełniste-rogowiec dłoniowo-podeszwowy | Zespół krucha skóra-włosy wełniste-hiperkeratoza dłoniowo-podeszwowa |
| cs | Syndrom zahrnující fragilitu kůže, křehké a kudrnaté vlasy a palmoplantární keratoderma | Syndrom zahrnující fragilitu kůže, křehké a kudrnaté vlasy a palmoplantární hyperkeratózu |
| uk | Синдром крихкості шкіри - шершаве волосся та долонно-підошовна кератодермія | Синдром крихкості шкіри - шерстяного волосся та долонно-підошовний гіперкератоз |
| zh | 皮肤脆性-毛发-掌跖角化病综合征 | 皮肤脆性-毛发-掌跖角化病综合征 |
| tr | Deri kırılganlığı-yünlü saç-palmoplantar keratoderma sendromu | Deri kırılganlığı-yünlü saç-palmoplantar hiperkeratoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0011882 | E | validated | |
| UMLS | C4755263 | E | validated | |
| GARD | 5231 | 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 (3):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|
| DSP | Disease-causing germline mutation(s) in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 11841538[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 20738328[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293165
- This record as JSON: /data/d/293165.json