ArticleThe Journal of dermatology2020
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
Article in The Journal of dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Genome-Wide Association Study of Psoriasis, Psoriatic Arthritis, Anti-TNF-α Response, and Polygenic Risk Score in a Russian Cohort.International journal of molecular sciences · 2026Article
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- The adhesion GPCR ADGRL2 engages Gα13 to enable epidermal differentiation.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.Pediatric dermatology · 2022Article
- Bioinformatics analysis of gene expression profile and functional analysis in periodontitis and Parkinson's disease.Frontiers in aging neuroscience · 2022Article
- Integrative Multi-Omics Analysis Reveals Candidate Biomarkers for Oral Squamous Cell Carcinoma.Frontiers in oncology · 2021Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive trait. Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited genodermatosis: hypotrichosis simplex of the scalp. This disease is characterized by progressive hair loss of the scalp with onset after early childhood. Clinical data were obtained from a patient with lifelong generalized skin peeling and both his parents. The patient's parents did not suffer from skin peeling, but the mother had a history of thin scalp hair since early childhood. Mutation analysis in the patient showed compound heterozygous mutations in exon 2 of CDSN, a nonsense mutation c.598C>T (p.[Gln200*]), previously associated with hypotrichosis simplex of the scalp, and a frame-shift mutation c.164_167dup (p.[Thr57Profs*6]), previously described in peeling skin disease. The p.(Gln200*) mutation was also found in the mother of the proband. Our study strengthens the previously established link between mutations in CDSN to peeling skin disease and hypotrichosis simplex of the scalp.
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