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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%).
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
QRX003 is also currently being evaluated in late-stage clinical trials for Netherton Syndrome, a severe and devastating, life-altering rare disease for which there are currently no approved therapies. EMA grants Orphan Drug Designation to investigational QRX003 for Peeling Skin Syndrome, its eighth regulatory designation across two indications.... Quoin Pharmaceuticals Ltd. is a late clinical-stage specialty pharmaceutical company focused on developing and commercializing therapeutic products that treat rare and orphan diseases. We are committed to addressing unmet medical needs for patients, their families, communities and care teams. Quoin’s innovative pipeline comprises four products in development that collectively have the potential to target a broad number of rare and orphan indications, including Netherton Syndrome, Peeling Skin Syndrome, SAM Syndrome, Palmoplantar Keratoderma, Scleroderma, Epidermolysis Bullosa, Microcystic Lymphatic Malformations, Venous Malformations, Angiofibroma and others. – Company on track to initiate first-ever formal clinical trial in Peeling Skin Syndrome before year end · – Orphan Drug designation milestone provides 10 years of market exclusivity for Peeling Skin Syndrome in Europe after receipt of marketing authorization in the European Union · – Designation Represents Eighth Important Regulatory Milestone for QRX003 · – QRX003 has also been granted Pediatric Rare Disease Designation and Fast Track Designation for Peeling Skin Syndrome from US Food and Drug Administration (NASDAQ: QNRX) (the “Company” or “Quoin”), a late clinical stage, specialty pharmaceutical company focused on rare and orphan diseases, today announces that its lead product candidate QRX003 has been granted Orphan Drug Designation in Europe by the European Medicines Agency (EMA) for the treatment of Peeling Skin Syndrome.
QRX003 is also currently being evaluated in late-stage clinical trials for Netherton Syndrome, a severe and devastating, life-altering rare disease for which there are currently no approved therapies. Quoin says its first formal study for Peeling Skin Syndrome is on track before year-end; designation offers protocol advice, fee reductions and EU grants. The company describes the planned study as the first formal clinical trial for the condition. Quoin Pharmaceuticals, Ltd. ... Sep 22, 2026 Quoin Pharmaceuticals Announces FDA Fast Track Designation for QRX003 for the Treatment of Peeling Skin Syndrome · Sep 10, 2026 Quoin Pharmaceuticals Releases New NETHERTON NOW Video: Aminah’s Story Featuring Laura Wright-Sexton, MD, the Physician Who First Met Her Daughter in the ICU · Sep 8, 2026 Quoin Pharmaceuticals Announces FDA Grants Rare Pediatric Disease Designation for QRX003 in Peeling Skin Syndrome Quoin Pharmaceuticals Ltd. is a late clinical-stage specialty pharmaceutical company focused on developing and commercializing therapeutic products that treat rare and orphan diseases. We are committed to addressing unmet medical needs for patients, their families, communities and care teams. Quoin’s innovative pipeline comprises four products in development that collectively have the potential to target a broad number of rare and orphan indications, including Netherton Syndrome, Peeling Skin Syndrome, SAM Syndrome, Palmoplantar Keratoderma, Scleroderma, Epidermolysis Bullosa, Microcystic Lymphatic Malformations, Venous Malformations, Angiofibroma and others. Forward-looking: it has not happened yet and may not happen.Quoin expects to initiate a formal Peeling Skin Syndrome clinical trial before year-end 2026. Minor pointQRX003 received European orphan drug designation for Peeling Skin Syndrome, providing protocol advice, fee reductions and EU grant access. Minor point. Forward-looking: it has not happened yet and may not happen.QRX003 would receive 10 years of European market exclusivity for Peeling Skin Syndrome if approved for marketing. Minor pointQRX003 also holds US Pediatric Rare Disease and Fast Track designations for Peeling Skin Syndrome.
