ArticleJournal of medical genetics1993
Epidermal mosaicism and Blaschko's lines.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 98 citations in OpenAlex.
- Unilateral Blaschkolinear Agminated Pigmented Lesion in an 11-year-old Girl: A Quiz.Acta dermato-venereologica · 2026Article
- Article
- The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.Brain sciences · 2021Review
- Genetic Testing in CYLD Cutaneous Syndrome: An Update.The application of clinical genetics · 2021Review
- 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
- Hypomelanosis of Ito with Multiple Congenital Anomalies.Annals of dermatology · 2019Article
- Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.JAMA dermatology · 2019Article
- Somatic Mutations in NEK9 Cause Nevus Comedonicus.American journal of human genetics · 2016Article
- Two Concurrent Facial Epidermal Nevi without Systemic Abnormalities: Nevus Sebaceus and Nevus Comedonicus.Annals of dermatology · 2014Article
- Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.The Journal of investigative dermatology · 2014Article
- Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.The Journal of investigative dermatology · 2013Article
- Schimmelpenning syndrome: a kind of craniofacial epidermal nevus associated with cerebral and ocular MR imaging abnormalities.AJNR. American journal of neuroradiology · 2010Article
- Pigmentary mosaicism: an update.Indian journal of dermatology · 2008Article
- Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.American journal of human genetics · 1997Article
- Asymmetry and skin pigmentary anomalies in chromosome mosaicism.Journal of medical genetics · 1994Article
- Epidermal mosaicism and Blaschko's lines.Journal of medical genetics · 1994Article
- Dysmorphic disorders--an overview.Journal of inherited metabolic disease · 1994Review
- Unilateral linear syringoma on the right chest and arm.Anais brasileiros de dermatologiaArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocytes; furthermore, the abnormal cell line was confirmed to the hypopigmented epidermis and the normal epidermis contained only normal cells. Negative findings in the other two patients might be because of mosaicism which was undetected either because it was submicroscopic or because it was present in melanocytes, which have not yet been studied. These preliminary results support the ideas that (1) Blaschko's lines represent single clones of epidermal cells; (2) in patients with HI and severe neurological involvement mosaicism, if detectable, is best shown in keratinocytes; and (3) the cytogenetic defect in epidermal cells may be directly responsible for the failure of pigmentation in HI.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.