ArticleThe Journal of clinical investigation2004
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
Article in The Journal of clinical investigation, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Insulin-regulated actin dynamics is disrupted in a human keratinocyte model of Hailey-Hailey disease.American journal of physiology. Cell physiology · 2026Article
- Insulin-Regulated Actin Dynamics is Disrupted in a Human Keratinocyte Model of Hailey Hailey Disease.bioRxiv : the preprint server for biology · 2025Article
- Hailey-Hailey Disease: Case Series and Review of Systemic Medications.Dermatology practical & conceptual · 2024Review
- Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.European journal of human genetics : EJHG · 2023Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Mosaic variant in ATP2C1 presenting as relapsing linear acantholytic dermatosis.The British journal of dermatology · 2020Article
- Article
- Linear Blisters in a Young Girl: A Quiz.Acta dermato-venereologica · 2020Article
- A Novel Microduplication Spanning Exons 8-16 ofFrontiers in medicine · 2020Article
- Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.American journal of medical genetics. Part A · 2019Article
- Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.Scientific reports · 2019Article
- Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease.International journal of molecular sciences · 2018Article
- [Rudolf Happle celebrates his 80th birthday].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2018Article
- Mosaicism in Cutaneous Disorders.Annual review of genetics · 2017Review
- The role of the ATP2C1 gene in Hailey-Hailey disease.Cellular and molecular life sciences : CMLS · 2017Review
- The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease.Scientific reports · 2016Article
- ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.Cell death & disease · 2016Review
- [How frequently does genetic mosaicism occur in the skin?].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2014Review
- The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development.PLoS genetics · 2013Article
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Abstract
Hailey-Hailey disease (HHD) is an autosomal dominant trait characterized by erythematous and oozing skin lesions preponderantly involving the body folds. In the present unusual case, however, unilateral segmental areas along the lines of Blaschko showing a rather severe involvement were superimposed on the ordinary symmetrical phenotype. Based on this observation and similar forms of mosaicism as reported in other autosomal dominant skin disorders, we postulated that in such cases, 2 different types of segmental involvement can be distinguished. Accordingly, the linear lesions as noted in the present case would exemplify type 2 segmental HHD. In the heterozygous embryo, loss of heterozygosity occurring at an early developmental stage would have given rise to pronounced linear lesions reflecting homozygosity or hemizygosity for the mutation. By analyzing DNA and RNA derived from blood and skin samples as well as keratinocytes of the index patient with various molecular techniques including RT-PCR, real-time PCR, and microsatellite analysis, we found a consistent loss of the paternal wild-type allele in more severely affected segmental skin regions, confirming this hypothesis for the first time, to our knowledge, at the molecular and cellular level.
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