peeling skin syndrome 5
MONDO:0014923Mondo
Findings
No curated finding names peeling skin syndrome 5 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 SERPINB8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014923), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 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.
- Scaling skinHPOHP:0040189
- 7 of 7 reported patients
- Epidermal acanthosisHPOHP:0025092
- HyperkeratosisHPOHP:0000962
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.
- SERPINB8HGNC:8952
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: peeling skin syndrome 5
- Also called
- peeling skin syndrome 5; PSS5peeling skin syndrome caused by mutation in SERPINB8peeling skin syndrome type 5PSS5SERPINB8 peeling skin syndrome