Pigmentary Mosaicism: An Overview
ABSTRACT Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolo...
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Wiley
2025-09-01
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| Series: | JEADV Clinical Practice |
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| Online Access: | https://doi.org/10.1002/jvc2.70048 |
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| author | C. Colmant E. Legius N. Cattaert M.‐A. Morren |
| author_facet | C. Colmant E. Legius N. Cattaert M.‐A. Morren |
| author_sort | C. Colmant |
| collection | DOAJ |
| description | ABSTRACT Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal abnormality, mosaicism for an intragenic pathogenic variant and epigenetic mosaicism (X‐linked due to X‐chromosome inactivation). Recently, different new disease entities have been described with a specific genotype, most of them with characteristic extra‐cutaneous features. |
| format | Article |
| id | doaj-art-16d59bf2a1514fd3b6773ff8d76f19ec |
| institution | DOAJ |
| issn | 2768-6566 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | JEADV Clinical Practice |
| spelling | doaj-art-16d59bf2a1514fd3b6773ff8d76f19ec2025-08-20T02:56:29ZengWileyJEADV Clinical Practice2768-65662025-09-014368168910.1002/jvc2.70048Pigmentary Mosaicism: An OverviewC. Colmant0E. Legius1N. Cattaert2M.‐A. Morren3Department of Dermatology University Hospital Leuven Leuven BelgiumDepartment of Human Genetics University Hospital Leuven Leuven BelgiumDepartment of Dermatology Heilig Hart Ziekenhuis Lier BelgiumPediatric Dermatology Unit, Dept of Pediatrics and Dermatology Lausanne University Hospital and University of Lausanne Lausanne SwitzerlandABSTRACT Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal abnormality, mosaicism for an intragenic pathogenic variant and epigenetic mosaicism (X‐linked due to X‐chromosome inactivation). Recently, different new disease entities have been described with a specific genotype, most of them with characteristic extra‐cutaneous features.https://doi.org/10.1002/jvc2.70048hypomelanosis of Itolinear hypermelanosispigmentary mosaicisme |
| spellingShingle | C. Colmant E. Legius N. Cattaert M.‐A. Morren Pigmentary Mosaicism: An Overview JEADV Clinical Practice hypomelanosis of Ito linear hypermelanosis pigmentary mosaicisme |
| title | Pigmentary Mosaicism: An Overview |
| title_full | Pigmentary Mosaicism: An Overview |
| title_fullStr | Pigmentary Mosaicism: An Overview |
| title_full_unstemmed | Pigmentary Mosaicism: An Overview |
| title_short | Pigmentary Mosaicism: An Overview |
| title_sort | pigmentary mosaicism an overview |
| topic | hypomelanosis of Ito linear hypermelanosis pigmentary mosaicisme |
| url | https://doi.org/10.1002/jvc2.70048 |
| work_keys_str_mv | AT ccolmant pigmentarymosaicismanoverview AT elegius pigmentarymosaicismanoverview AT ncattaert pigmentarymosaicismanoverview AT mamorren pigmentarymosaicismanoverview |