Mosaicism in cutaneous pigmentation

Lombillo, Vivian A.; Sybert, Virginia P.

doi:10.1097/01.mop.0000171319.84053.45

Cited by 30 publications

(16 citation statements)

References 47 publications

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“…Individuals with linear and whorled nevoid hypermelanosis have sections of skin with increased pigmentation (Figure 2D). Careful genomic investigation of these areas can often identify chromosomal or CNV mosaicism that encompasses known pigmentation genes [86]. The majority of individuals have no extra-cutaneous manifestations.…”

Section: Phenotypic Manifestations Of Mosaicismmentioning

confidence: 99%

Somatic mosaicism: implications for disease and transmission genetics

et al. 2015

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Nearly all of the genetic material among cells within an organism is identical. However, single nucleotide variants (SNVs), indels, copy number variants (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. This process results in an organism composed of countless cells, each with its own unique personal genome. Thus, every human is undoubtedly mosaic. Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. Here, we review the influence of the developmental timing of mutations, the mechanisms by which they arise, methods for detecting mosaic variants, and the risk of passing these mutations on to the next generation.

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Section: Phenotypic Manifestations Of Mosaicismmentioning

confidence: 99%

Somatic mosaicism: implications for disease and transmission genetics

et al. 2015

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“…The repertoire of genetic defects underlying cutaneous mosaicism is also surprising. For example, pigmentary mosaicism (so‐called ‘hypomelanosis of Ito’) can be caused by various chromosomal anomalies or monogenic defects . In contrast, in naevoid lesions, affected genes often disturb signalling pathways involved in cell growth and survival.…”

Section: Molecular Basis Of Epidermal Naevimentioning

confidence: 99%

Mosaicism in the skin: lumping or splitting?

Has

2017

Br J Dermatol

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“…Unilateral veya bilateral görülebilmektedir. 1,19 Bazı hastalarda hipopigmente lezyonlara ekstrakutanöz bulgular eşlik edebilmektedir. Özellikle nörolojik, oküler, kas-iskelet sistemi etkilenir.…”

Section: Göz (Koristoma Katarakt)unclassified

“…3,19,36 Kindler sendromu, epidermoliz bülloza, Fankoni anemisi örnek olarak verilebilir. 3,19,36,37 K Kr ro om mo oz zo om ma al l m mo oz za ai is si iz zm m Sayısal kromozomal anomaliler de deriyi mozaik paternde etkileyebilmektedir. 13 Filloid paternde hipopigmente makül varlı-ğında kromozomal anomaliler araştırılmalıdır.…”

Section: Göz (Koristoma Katarakt)unclassified