Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Synonyms: PLACK syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome | PLACK syndrome |
| fr | Syndrome de peau déciduale-leuconychie-kératose acrale ponctuée-chéilite-nodosités calleuses | Syndrome PLACK |
| de | Hautablösung-Leukonychie-akral punktierte Keratosen-Cheilitis-Fingerknöchelpolster-Syndrom | PLACK-Syndrom |
| es | Síndrome de descamación cutánea-leuconiquia-queratosis punctata acral-queilitis-almohadillas de nudillo | Síndrome PLACK |
| it | Sindrome desquamazione cutanea-leuconichia-cheratosi puntata acrale-cheilite-nocche imbottite | Sindrome PLACK |
| nl | Afschilferende huid - leukonychie - acrale puntvormige keratoses - cheilitis - knokkelkussentjes-syndroom | PLACK-syndroom |
| pt | Síndrome de pele descamativa-leuconíquia-queratoses punctiformes acrais-queilite-lesões cutâneas nas articulações das mãos | |
| pl | Zespół złuszczającej się skóry, leukoonychii, punktowej keratozy kończynowej, zapalenia warg i palców poduszeczkowatych | Zespół plACK |
| cs | Syndrom zahrnující olupování kůže, leukonychii, akrální tečkovanou keratózu, cheilitidu a Garrodovy uzly | PLACK syndrom |
| uk | Синдром лущення шкіри-лейконіхії-акрального точкового кератозу-хейліту-суглобових подушечок | Синдром PLACK |
| zh | 脱皮-白甲-肢端点状角化-唇炎-指节垫综合征 PLACK综合征 | PLACK综合征 |
| tr | Peeling cilt-lökonyak-akral noktalı keratozlar-cheilitis-knuckle pads sendromu | PLACK sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616295 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.1 | NTBT | attributed | validated |
| MONDO | 0014574 | E | validated | |
| UMLS | C4225381 | 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:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases - ORPHA:2338Isolated punctate palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAST | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1515 | ENSG00000153113 | 114090 | 5q15 | calpastatin | 25683118[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25683118[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25683118[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/444138
- This record as JSON: /data/d/444138.json