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peeling skin syndrome 5 (PSS5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peeling skin syndrome 5

MONDO:0014923

Also known as:PSS5SERPINB8 peeling skin syndromepeeling skin syndrome 5; PSS5

Overview

Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.

GeneticsAutosomal recessive · SERPINB8 (chr 18)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Scaling skin. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Scaling skin, Thickened, rough skin (hyperkeratosis)

Explore clinical features

Genetic Landscape

SERPINB8 function has not been fully characterized.

Peeling skin syndrome 5 is associated with mutations in the SERPINB8 gene on chromosome 18.

Diagnosis

Genetic testing for SERPINB8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for peeling skin syndrome 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for peeling skin syndrome 5.

4 publications have been identified in PubMed for peeling skin syndrome 5. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Recent Publications

Higashino T (2025). [PMID: 39133571](https://pubmed.ncbi.nlm.nih.gov/39133571/). *The Journal of dermatology*. [Case Report / Case Series]
Zingkou E (2025). [PMID: 40943523](https://pubmed.ncbi.nlm.nih.gov/40943523/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Skrypnyk C (2024). [PMID: 39425040](https://pubmed.ncbi.nlm.nih.gov/39425040/). *BMC pregnancy and childbirth*. [Diagnostic / Biomarker]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergologie select*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617115

GARD

Genetic and Rare Diseases Info Center

GARD:18427

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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peeling skin syndrome 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team