Huriez syndrome
Synonyms: Palmoplantar hyperkeratosis-sclerodactyly syndrome · Palmoplantar keratoderma-sclerodactyly syndrome · Scleroatrophic syndrome · Sclerotylosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Huriez syndrome | Palmoplantar hyperkeratosis-sclerodactyly syndrome · Palmoplantar keratoderma-sclerodactyly syndrome · Scleroatrophic syndrome · Sclerotylosis |
| fr | Syndrome de Huriez | Sclérotylose · Syndrome d'hyperkératose palmoplantaire-sclérodactylie · Syndrome de kératodermie palmoplantaire-sclérodactylie |
| de | Huriez-Syndrom | Palmoplantare Hyperkeratose-Sklerodaktylie-Syndrom · Palmoplantarkeratose-Sklerodaktylie-Syndrom · Skleroatrophisches Syndrom · Sklerotylose |
| es | Síndrome de Huriez | Esclerotilosis · Síndrome de hiperqueratosis palmoplantar-esclerodactilia · Síndrome de queratodermia palmoplantar-esclerodactilia · Síndrome escleroatrófico |
| it | Sindrome di Huriez | Sclerotilosi · Sindrome di Huriez · Sindrome ipercheratosi palmoplantare-sclerodattilia · Sindrome scleroatrofica |
| nl | Syndroom van Huriez | Palmoplantaire hyperkeratose - sclerodactylie-syndroom · Palmoplantaire keratodermie - sclerodactylie-syndroom · Scleroatrofisch syndroom · Sclerotylose |
| pt | Síndrome Huriez | Síndrome de hiperqueratose palmo-plantar-esclerodactilia · Síndrome de queratodermia palmo-plantar-esclerodactilia · Síndrome escleroatrófico |
| pl | Zespół Hurieza | Scleroatrophic syndrome · Zespół hiperkeratoza dłoniowo-podeszwowa - sklerodaktylia · Zespół Hurieza |
| cs | Syndrom zahrnující palmoplantární keratoderma a sklerodaktylii | Syndrom zahrnující palmoplantární hyperkeratózu a sklerodaktylii · Skleroatrofický syndrom · Sklerotylóza · Huriezův syndrom |
| uk | Синдром Гурє | Синдром долонно-підошовного гіперкератозу-склеродактилії · Синдром долонно-підошовної кератодермії-склеродактилії · Склероатрофічний синдром · Склеротильоз |
| zh | 硬化萎缩综合征 | 掌跖的角化过度指硬皮病综合征 |
| tr | Huriez sendromu | Sklerotiloz · Skleroatrofik sendrom · Palmoplantar keratoderma-sklerodaktili sendromu · Palmoplantar hiperkeratoz-sklerodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181600 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0008416 | E | validated | |
| MeSH | C537526 | E | validated | |
| UMLS | C0406767 | E | validated | |
| GARD | 8517 | E | validated | |
| MedDRA | 10070504 | 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:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18398 | ENSG00000163104 | 612761 | 4q22.3 | SNF2 related chromatin remodeling ATPase with DExD box 1 | 29409814[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 8731679[PMID]_9274637[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8731679[PMID]_9274637[PMID]_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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000958 | Dry skin | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0011838 | Sclerodactyly | |
| HP:0001792 | Small nail | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/384
- This record as JSON: /data/d/384.json