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peeling skin syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peeling skin syndrome 4

MONDO:0011937

Also known as:CSTA peeling skin syndromepeeling skin syndrome caused by mutation in CSTApeeling skin syndrome type 4

Overview

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

GeneticsAutosomal recessive · CSTA (chr 3)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include sometimes findings: Epidermal acanthosis and Nail dystrophy. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Dry, scaly skin (ichthyosis), Scaling skin, Nail dystrophy

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.

CSTA encodes cystatin A (98 aa). This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis Highest expression in Esophagus Mucosa (3,672 TPM) and Vagina (1,176 TPM).

Peeling skin syndrome 4 is associated with mutations in the CSTA gene on chromosome 3.

CSTA is classified as a druggable target (Protease Inhibitor category) with score 0.0.

Diagnosis

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

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 4.

6 publications have been identified in PubMed for peeling skin syndrome 4. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

Liang L (2026). [PMID: 41380997](https://pubmed.ncbi.nlm.nih.gov/41380997/). *Mol Cell Proteomics*. [Basic Science / Preclinical]
Higashino T (2025). [PMID: 39133571](https://pubmed.ncbi.nlm.nih.gov/39133571/). *J Dermatol*. [Case Report / Case Series]
Ota VK (2025). [PMID: 40701620](https://pubmed.ncbi.nlm.nih.gov/40701620/). *Clin Exp Dermatol*. [Epidemiology / Natural History]
Chen Y (2025). [PMID: 39377561](https://pubmed.ncbi.nlm.nih.gov/39377561/). *J Dermatol*. [Case Report / Case Series]
Lichawska-Cieslar A (2025). [PMID: 40200325](https://pubmed.ncbi.nlm.nih.gov/40200325/). *Cell Commun Signal*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607936

GARD

Genetic and Rare Diseases Info Center

GARD:18426

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 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team