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peeling skin syndrome 6 (PSS6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peeling skin syndrome 6

MONDO:0054852

Also known as:PSS6

Overview

GeneticsAutosomal recessive · FLG2 (chr 1)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Atopic dermatitis, Dry skin, Scaling skin, and Pruritus and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Atopic dermatitis, Dry skin, Scaling skin

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FLG2 encodes filaggrin 2 (2,391 aa). Essential for normal cell-cell adhesion in the cornified cell layers. Important for proper integrity and mechanical strength of the stratum corneum of the epidermis Highest expression in Skin Sun Exposed Lower leg (714.1 TPM) and Skin Not Sun Exposed Suprapubic (496.4 TPM).

Peeling skin syndrome 6 is associated with mutations in the FLG2 gene on chromosome 1.

FLG2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FLG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for peeling skin syndrome 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features.

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 6.

6 publications have been identified in PubMed for peeling skin syndrome 6. Research spans Review / Meta-Analysis (33%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Ota VK (2025). [PMID: 40701620](https://pubmed.ncbi.nlm.nih.gov/40701620/). *Clinical and experimental dermatology*. [Epidemiology / Natural History]
Haxho F (2025). [PMID: 40387456](https://pubmed.ncbi.nlm.nih.gov/40387456/). *Pediatric dermatology*. [Review / Meta-Analysis]
Yu F (2025). [PMID: 41002404](https://pubmed.ncbi.nlm.nih.gov/41002404/). *Cells*. [Review / Meta-Analysis]
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, 3:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618084

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 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team