Show simple item record Ellis, Katharine T. Ovejero Crespo, Diana Choate, Keith A. 2022-09-27T06:07:08Z 2022-09-27T06:07:08Z 2021
dc.identifier.citation Ellis KT, Ovejero D, Choate KA. Cutaneous mosaicism: Special considerations for women. Int J Womens Dermatol. 2021 Oct 27;7(5Part A):539-44. DOI: 10.1016/j.ijwd.2021.10.004
dc.identifier.issn 2352-6475
dc.description.abstract Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko. Due to its clinical accessibility, cutaneous mosaicism is well suited for genetic analysis. An individual's unaffected tissue can be used as an intrapatient genetic control, a technique that has yielded insight into the genetic etiologies of many disorders, several of which bear mutations in genes that would otherwise be embryonic-lethal. Particular mosaic diseases can also disproportionally impact women. Two such diseases, incontinentia pigmenti (IP) and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome, arise from mutations on the X chromosome. Both diseases result in fetal demise in males in most cases, thus making the two diseases largely specific to women. Women with McCune-Albright Syndrome, caused by somatic mutations in GNAS, often experience precocious puberty and infertility as a result of uncontrolled cAMP regulation in affected tissue. Women with cutaneous mosaicism carry a risk of transmission to offspring when gonosomal mosaicism is present, yet cutaneous disease burden does not correlate with germline transmission risk. Cutaneous mosaic disease represents a biologically unique set of disorders that can warrant special clinical attention in women.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof Int J Womens Dermatol. 2021 Oct 27;7(5Part A):539-44
dc.rights © 2021 The Author(s). Published by Elsevier Inc. on behalf of Women’s Dermatologic Society. This is an open access article under the CC BY-NC-ND license (
dc.title Cutaneous mosaicism: Special considerations for women
dc.type info:eu-repo/semantics/article
dc.subject.keyword CHILD syndrome
dc.subject.keyword Genetics
dc.subject.keyword McCune–Albright syndrome
dc.subject.keyword Incontinentia pigmenti
dc.subject.keyword Mosaicism
dc.subject.keyword Somatic mutation
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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