Mosaicism in human skin. Understanding the patterns and mechanisms

Happle, Rudolf

doi:10.1001/archderm.129.11.1460

Cited by 271 publications

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“…Interestingly, the patterned skin markings vary considerably. For example, several visible skin diseases follow the lines of Blaschko, which trace out what seem like contour lines or whorls over the skin surface (9)(10)(11)(12). Other distinct patterns also occur in skin diseases (12).…”

Section: Genetic Mosaicismmentioning

confidence: 99%

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Frank

2010

Proc. Natl. Acad. Sci. U.S.A.

161

129

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Somatic mutations must happen often during development because of the large number of cell divisions to expand from a single-cell zygote to a full organism. A mutation in development carries forward to all descendant cells, causing genetic mosaicism. Widespread genetic mosaicism may influence diseases that derive from a few genetically altered cells, such as cancer. I show how to predict the expected amount of mosaicism and the variation in mosaicism between individuals. I then calculate the predicted risk of cancer derived from developmental mutations. The calculations show that a significant fraction of cancer in later life likely arises from developmental mutations in early life. In addition, much of the variation in the risk of cancer between individuals may arise from variation in the degree of genetic mosaicism set in early life. I also suggest that certain types of neurodegeneration, such as amyotrophic lateral sclerosis (ALS), may derive from a small focus of genetically altered cells. If so, then the risk of ALS would be influenced by developmental mutations and the consequent variation in genetic mosaicism. New technologies promise the ability to measure genetic mosaicism by sampling a large number of cellular genomes within an individual. The sampling of many genomes within an individual will eventually allow one to reconstruct the cell lineage history of genetic change in a single body. Somatic evolutionary genomics will follow from this technology, providing new insight into the origin and progression of disease with increasing age.

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Section: Genetic Mosaicismmentioning

confidence: 99%

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Frank

2010

Proc. Natl. Acad. Sci. U.S.A.

161

129

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“…2,3,7,9 However, chromosomal mosaicism in fibroblast cultures is also possible. 2,10,11 Cutis tricolor is associated with multisystem birth defects such as craniofacial anomalies including hypertelorism, epicantal folds, wide philtrum, backward rotated ears, brushy eyebrows, deep nasal bridge with broad nostrils, mental and motor retardation, epileptic seizures, a behavioural phenotype, severe kyphoscoliosis and non-specific brain abnormalities. 2,3,6 We have defined most of these craniofacial anomalies and brain abnormalities with developmental delay in the present case; however, she had no epileptic seizures.…”

Section: Discussionmentioning

confidence: 99%

Cutis Tricolor Parvimaculata: A Distinct Neurocutaneous Syndrome with Brain Involvement: Case Report

Alp¹,

Keser²,

Paksoy³

2012

Turkiye Klinikleri J Med Sci

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1410utis tricolor is an entity of a neurocutaneous syndrome that must be distinguished from tuberous sclerosis and neurofibromatosis. The characteristic lesions are hypo-and hyperpigmented macules, most likely representing twin spotting, located on normal skin.1,2 The location and size of the macules are extremely variable.3,4 Thus, it is clear that cutis tricolor is not one distinct clinical entity, it should rather be taken as a cutaneous sign of several different types of mosaicism.5 Cutis tricolor parvimaculata describes the smaller disseminated twin spotting different from commonly known lesions.5 Cutis tricolor may be associated with multisysCutis Tricolor Parvimaculata: A Distinct Neurocutaneous Syndrome with Brain Involvement: Case Report A AB BS ST TR RA AC CT T Cutis tricolor is a skin disorder characterized by the coexistence of congenital hypoand hyperpigmented maculer lesions, in close proximity to each other on a background of normal skin. Cutis tricolor parvimaculata describes the form consisting of smaller spots. These skin macules are called twin spotting and represent a part of a neurocutaneous malformation syndrome. Cutis tricolor may accompany various multisystem birth defects including craniofacial and brain abnormalities. It must be distinguished from other neurocutaneous syndromes such as tuberous sclerosis and neurofibromatosis. We described cutis tricolor parvimaculata in a 3-year-old girl, the reported youngest patient in the literature, with diffuse pigmentary spotting on the skin, facial anomalies, developmental delay and brain involvement. Hayrullah ALP,

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“…Happle classified these different patterns of expression of cutaneous mosaicism as follows: type 1, lines of Blaschko (1a narrow lines, 1b broad lines); type 2, checkerboard; type 3, phylloid; type 4, large patches without midline separation; and type 5, lateralization [27].…”

Section: What Is Behind Cutaneous Mosaicism?mentioning

confidence: 99%

Pearls from Medical Genetics Clinic

Swanson

Sybert

2013

Curr Derm Rep

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A medical genetics clinic is a unique and complex environment in which care requires a combination of medical knowledge, social intelligence, and emotional sensitivity. We offer a few pearls from our medical genetics clinic that we hope will help the pediatric or general dermatologist when caring for patients with known or suspected genetic disorders. This paper addresses five main topics: When is it more than just atopic dermatitis? How should the clinician approach blistering in the newborn period? What is mosaicism? When is genetic testing useful? Where can clinician, patients, and families turn for available resources?

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Mosaicism in human skin. Understanding the patterns and mechanisms

Cited by 271 publications

References 0 publications

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Cutis Tricolor Parvimaculata: A Distinct Neurocutaneous Syndrome with Brain Involvement: Case Report

Pearls from Medical Genetics Clinic

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