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Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.
Features include always present findings: Increased total eosinophil count, Increased circulating IgE concentration, Scaling skin, and Erythroderma and others; and common findings: Brittle hair and Palmoplantar hyperhidrosis. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Scaling skin, Palmoplantar hyperhidrosis, Pruritus |
Growth and development | 1 | Short stature |
Lab test results | 1 | Increased circulating IgE concentration |
Lungs and breathing | 1 | Asthma |
CDSN encodes corneodesmosin (529 aa). Important for the epidermal barrier integrity
Peeling skin syndrome 1 is associated with mutations in the CDSN gene on chromosome 6.
The CDSN protein participates in Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathway.
CDSN is classified as a druggable target with score 2.6.
Genetic testing for CDSN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
9 publications have been identified in PubMed for peeling skin syndrome 1. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).
Szepietowska M (2026). [PMID: 41423004](https://pubmed.ncbi.nlm.nih.gov/41423004/). *J Pediatr*. [Case Report / Case Series]
Haxho F (2025). [PMID: 40387456](https://pubmed.ncbi.nlm.nih.gov/40387456/). *Pediatr Dermatol*. [Review / Meta-Analysis]
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]
Zingkou E (2025). [PMID: 40943523](https://pubmed.ncbi.nlm.nih.gov/40943523/). *Int J Mol Sci*. [Basic Science / Preclinical]
Higashino T (2025). [PMID: 39133571](https://pubmed.ncbi.nlm.nih.gov/39133571/). *J Dermatol*. [Case Report / Case Series]
Zhuang M (2024). [PMID: 39902296](https://pubmed.ncbi.nlm.nih.gov/39902296/). *Front Genet*. [Case Report / Case Series]
van der Velden JJAJ (2024). [PMID: 39072839](https://pubmed.ncbi.nlm.nih.gov/39072839/). *J Dermatol*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center