ORPHA:263553
Peeling skin syndrome type B
Synonyms: Generalized peeling skin disease type B · Generalized peeling skin syndrome type B · Inflammatory peeling skin disease · Inflammatory peeling skin syndrome · PSS type B · PSS1 · Peeling skin syndrome 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peeling skin syndrome type B | Generalized peeling skin disease type B · Generalized peeling skin syndrome type B · Inflammatory peeling skin disease · Inflammatory peeling skin syndrome · PSS type B · PSS1 · Peeling skin syndrome 1 |
| fr | Peeling skin syndrome type B | PSS type B · PSS1 · Peeling skin syndrome généralisé type B · Peeling skin syndrome inflammatoire |
| de | Peeling-Skin-Syndrom Typ B | PSS Typ B · PSS1 · Peeling-Skin-Syndrom 1 · Peeling-Skin-Syndrom Typ B, inflammatorisches · Peeling-Skin-Syndrom, generalisiertes, Typ B |
| es | Síndrome de descamación cutánea tipo B | Enfermedad de descamación generalizada de la piel tipo B · Enfermedad inflamatoria de descamación de la piel · PSS tipo B · PSS1 · Síndrome de descamación de la piel 1 · Síndrome de descamación generalizada de la piel tipo B · Síndrome inflamatorio de descamación de la piel |
| it | Sindrome da desquamazione cutanea tipo B | Malattia da desquamazione cutanea generalizzata tipo B · Malattia infiammatoria da desquamazione cutanea · PSS tipo B · PSS, tipo B · PSS1 · Pelle deciduale generalizzata, tipo B · Sindrome da desquamazione cutanea generalizzata tipo B · Sindrome da desquamazione cutanea generalizzata, tipo B · Sindrome da desquamazione cutanea tipo 1 · Sindrome infiammatoria da desquamazione cutanea |
| nl | 'Peeling skin'-syndroom type B | 'Peeling skin'-syndroom 1 · Gegeneraliseerde 'peeling skin'-syndroom type B · Gegeneraliseerde 'peeling skin'-ziekte type B · Inflammatoire 'peeling skin'-syndroom · Inflammatoire 'peeling skin'-ziekte · PSS type B · PSS1 |
| pt | Síndrome de pele descamativa tipo B | Doença de pele descamativa generalizada tipo B · PSS tipo B · PSS1 · Síndrome de pele descamativa 1 · Síndrome de pele descamativa generalizada tipo B · Síndrome de pele descamativa inflamatória |
| pl | Uogólniony zespół złuszczania się skóry typu B | Zespół złuszczania skóry typu B |
| cs | Syndrom loupající se kůže typ B | PSS typ B · Generalizovaná opadavá kůže typ B · Generalizovaný syndrom loupající se kůže typ B · Zánětlivý syndrom loupající se kůže |
| uk | Синдром лущення шкіри, тип В | Генералізоване лущення шкіри типу В · Синдром генералізованого лущення шкіри типу В · Запальне лущення шкіри · Синдром запального лущення шкіри · Синдром лущення шкіри 1 · PSS тип B · PSS1 |
| zh | 皮肤剥脱综合征B型 | 广泛性皮肤剥脱综合征B型 |
| tr | Peeling cilt sendromu tip B | PSS tip B · Jeneralize deri dökülmesi tip B · İnflamatuar cilt soyulması sendromu · Jeneralize cilt soyulması sendromu tip B |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270300 | NTBT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.1 | NTBT | index | validated |
| MONDO | 0024548 | E | validated | |
| UMLS | C5679693 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:263543Generalized peeling skin syndrome
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDSN | Disease-causing germline mutation(s) in | Assessed | HGNC:1802 | ENSG00000204539 | 602593 | 6p21.33 | corneodesmosin |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263553
- This record as JSON: /data/d/263553.json