peeling skin syndrome 1
MONDO:0024548Mondo
Findings
No curated finding names peeling skin syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.
Definition from the Mondo Disease Ontology (MONDO:0024548), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ErythrodermaHPOHP:0001019
- 4 of 4 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 2 of 2 reported patients
- Increased total eosinophil countHPOHP:0001880
- 2 of 2 reported patients
- PruritusHPOHP:0000989
- 4 of 4 reported patients
- Scaling skinHPOHP:0040189
- 4 of 4 reported patients
- Brittle hairHPOHP:0002299
- 2 of 4 reported patients
- Palmoplantar hyperhidrosisHPOHP:0007410
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDSNHGNC:1802
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: peeling skin syndrome 1
- Also called
- CDSN peeling skin syndromegeneralised deciduous skin type Bgeneralised peeling skin syndrome type Bgeneralized deciduous skin type Bgeneralized peeling skin syndrome type Binflammatory peeling skin syndromepeeling skin syndrome caused by mutation in CDSNpeeling skin syndrome type BPSS type B