Generalized peeling skin syndrome
Synonyms: Generalized deciduous skin · Generalized PSS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized peeling skin syndrome | Generalized deciduous skin · Generalized PSS |
| fr | Peeling skin syndrome généralisé | PSS généralisé · Peau déciduale généralisée |
| de | Peeling-Skin-Syndrom, generalisiertes | Generalisiertes PSS · Hautablösung, generalisierte |
| es | Síndrome de descamación cutánea generalizada | PSS generalizado · Piel decidual generalizada |
| it | Sindrome da desquamazione cutanea generalizzata | PSS generalizzata · Pelle deciduale generalizzata |
| nl | Gegeneraliseerde 'peeling skin'-syndroom | Gegeneraliseerde PSS · Gegeneraliseerde afschilferende huid |
| pt | Síndrome de pele descamativa generalizado | |
| pl | Uogólniony zespół złuszczania się skóry | = en |
| cs | Generalizovaný syndrom loupající se kůže | Generalizovaný PSS · Generalizovaná opadavá kůže |
| uk | Синдром генералізованого лущення шкіри | Генералізований лишай · Узагальнена ПСС |
| zh | 全身皮肤剥脱综合征 | 广泛性皮肤剥脱 |
| tr | Jeneralize cilt soyulması sendromu | PSS · Jeneralize deri dökülmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270300 | E | validated | |
| OMIM | 616265 | BTNT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.1 | NTBT | attributed | validated |
| MONDO | 0010033 | E | validated | |
| UMLS | C4305156 | E | validated | |
| GARD | 12862 | 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:817Peeling skin syndrome
rare genetic diseases; rare skin diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:263558OBSOLETE: Peeling skin syndrome type C referred to · inactive
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CHST8 | ORPHA:263548Peeling skin syndrome type A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15993 | ENSG00000124302 | 610190 | 19q13.11 | carbohydrate sulfotransferase 8 | 22289416[PMID] |
| FLG2 | ORPHA:263548Peeling skin syndrome type A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:33276 | ENSG00000143520 | 616284 | 1q21.3 | filaggrin 2 | 28884927[PMID] |
| SERPINB8 | ORPHA:263548Peeling skin syndrome type A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8952 | ENSG00000166401 | 601697 | 18q22.1 | serpin family B member 8 | 27476651[PMID] |
| CDSN | ORPHA:263553Peeling skin syndrome type B | Disease-causing germline mutation(s) in | Assessed | HGNC:1802 | ENSG00000204539 | 602593 | 6p21.33 | corneodesmosin |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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/263543
- This record as JSON: /data/d/263543.json