Hypopigmentation-punctate palmoplantar keratoderma syndrome
Synonyms: Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma · Hypopigmentation and punctate keratosis of the palms and soles
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypopigmentation-punctate palmoplantar keratoderma syndrome | Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma · Hypopigmentation and punctate keratosis of the palms and soles |
| fr | Syndrome d'hypopigmentation-kératodermie palmoplantaire ponctuée | Maladie de Cole |
| de | Hypopigmentierung-punktierte Palmoplantarkeratose-Syndrom | Hypopigmentierung und punktförmige Keratose der Handinnenflächen und Fußsohlen · Cole-Krankheit |
| es | Síndrome de hipopigmentación-queratodermia palmoplantar punctata | Enfermedad de Cole · Hipopigmentación guttata y queratodermia palmoplantar punctata · Hipopigmentación y queratosis punctata de palmas y plantas |
| it | Sindrome ipopigmentazione-cheratoderma palmoplantare puntato | Ipopigmentazione e cheratosi puntata dei palmi e delle piante · Ipopigmentazione guttata e cheratoderma palmoplantare puntato · Malattia di Cole |
| nl | Hypopigmentatie - puntvormige palmoplantaire keratodermie-syndroom | Guttate hypopigmentatie en puntvormige palmoplantaire keratodermie · Hypopigmentatie en puntvormige hyperkeratose van handpalm of voetzool · Ziekte van Cole |
| pt | Síndrome de hipopigmentação-queratodermia palmoplantar punctiforme | |
| pl | Zespół hipopigmentacja-punktowy rogowiec dłoniowo-podeszwowy | Choroba Cole'a · Guttate hypopigmentation and punctate palmoplantar keratoderma · Hipopigmentacja i punktowe rogowacenie dłoni i podeszw |
| cs | Syndrom zahrnující hypopigmentaci a tečkovaná palmoplantární keratoderma | Coleova nemoc · Kapkovitá hypopigmentace a tečkovaná palmoplantární keratoderma · Hypopigmentace a tečkovaná keratóza dlaní a chodidel |
| uk | Синдром гіпопігментації-пунктирної долонно-підошовної кератодермії | Хвороба Коула · Гуттатева гіпопігментація та точкова долонно-підошовна кератодермія · Гіпопігментація та точковий кератоз долонь і підошов |
| zh | 皮肤色素减退-点状掌跖角化病综合征 | 皮肤色素减退和手掌足底点状角化病 |
| tr | Hipopigmentasyon-noktalı palmoplantar keratoderma sendromu | Çölyak hastalığı · Guttat hipopigmentasyonu ve noktalı palmoplantar keratoderma · Avuç içi ve ayak tabanlarının hipopigmentasyonu ve punktata keratozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615522 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | attributed | validated |
| MONDO | 0014227 | E | validated | |
| UMLS | C3809781 | E | validated | |
| GARD | 12384 | 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:308031Autosomal dominant disease associated with punctate 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 |
|---|---|---|---|---|---|---|---|---|
| ENPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3356 | ENSG00000197594 | 173335 | 6q23.2 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 24075184[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 24075184[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/324561
- This record as JSON: /data/d/324561.json