Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | |
| fr | Syndrome d'anomalie de pigmentation-kératodermie palmoplantaire-carcinome de la peau | |
| de | Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom | |
| es | Síndrome de defectos de la pigmentación-queratodermia palmoplantar-carcinoma cutáneo | |
| it | Sindrome difetti della pigmentazione-cheratoderma palmoplantare-carcinoma cutaneo | |
| nl | Pigmentatiedefecten - palmoplantaire keratodermie - huidcarcinoom-syndroom | |
| pt | Síndrome de defeitos de pigmentação-queratodermia palmoplantar-carcinoma cutâneo | |
| pl | Zespół defektu pigmentacji, rogowca dłoniowo-podeszwowego i nowotworu skóry | |
| cs | Syndrom zahrnující poruchy pigmentace, palmoplantární keratoderma a karcinom kůže | |
| uk | Синдром дефектів пігментації-долонно-підошовної кератодермії-карциноми шкіри | |
| zh | 色素沉着-掌跖角化-皮肤癌综合征 | |
| tr | Pigmentasyon defektleri-palmoplantar keratoderma-cilt karsinom sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618373 | E | validated | |
| ICD-10 | D04.8 | NTBT | attributed | validated |
| MONDO | 0018657 | E | validated | |
| UMLS | C5681108 | 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 (9):
- ORPHA:79364Alopecia
rare skin diseases - 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:481771Genetic alopecia
rare genetic diseases - ORPHA:183463Genetic pigmentation anomaly of the skin
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:79374Pigmentation anomaly of the skin
rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SASH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19182 | ENSG00000111961 | 607955 | 6q24.3-q25.1 | SAM and SH3 domain containing 1 | 25315659[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25315659[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25315659[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/447961
- This record as JSON: /data/d/447961.json