Categories of Cutaneous Mosaicism
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders. (3) Simple segmental versu...
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| Language: | English |
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Wiley
2025-08-01
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| Series: | JEADV Clinical Practice |
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| Online Access: | https://doi.org/10.1002/jvc2.70075 |
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| author | Rudolf Happle |
| author_facet | Rudolf Happle |
| author_sort | Rudolf Happle |
| collection | DOAJ |
| description | ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders. (3) Simple segmental versus superimposed mosaicism in autosomal dominant disorders. (4) Lethal mutations surviving in a mosaic; (5) Isolated segmental biallelic monoclonal mosaicism; (6) Autosomal recessive mosaicism; (7) Revertant mosaicism in autosomal dominant disorders; (8) Revertant mosaicism in autosomal recessive disorders; (9) Epigenetic mosaicism in X‐linked dominant, male‐lethal traits; (10) Epigenetic mosaicism in X‐linked, nonlethal traits; (11) Mosaicism in polygenic disorders; (12) Hypothetical epigenetic mosaicism in an autosomal dominant trait. Future research may show whether this classification is useful and complete. |
| format | Article |
| id | doaj-art-b837e6e34cba4360bafe0cd17e8f96d7 |
| institution | Kabale University |
| issn | 2768-6566 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | JEADV Clinical Practice |
| spelling | doaj-art-b837e6e34cba4360bafe0cd17e8f96d72025-08-20T03:39:15ZengWileyJEADV Clinical Practice2768-65662025-08-014365265810.1002/jvc2.70075Categories of Cutaneous MosaicismRudolf Happle0Department of Dermatology Medical Center—University of Freiburg Freiburg GermanyABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders. (3) Simple segmental versus superimposed mosaicism in autosomal dominant disorders. (4) Lethal mutations surviving in a mosaic; (5) Isolated segmental biallelic monoclonal mosaicism; (6) Autosomal recessive mosaicism; (7) Revertant mosaicism in autosomal dominant disorders; (8) Revertant mosaicism in autosomal recessive disorders; (9) Epigenetic mosaicism in X‐linked dominant, male‐lethal traits; (10) Epigenetic mosaicism in X‐linked, nonlethal traits; (11) Mosaicism in polygenic disorders; (12) Hypothetical epigenetic mosaicism in an autosomal dominant trait. Future research may show whether this classification is useful and complete.https://doi.org/10.1002/jvc2.70075autosomal recessive mosaicismbiallelic mosaicismdisseminated mosaicismepigenetic mosaicismisolated segmental biallelic monoclonal mosaicismlethal mutations surviving in a mosaic |
| spellingShingle | Rudolf Happle Categories of Cutaneous Mosaicism JEADV Clinical Practice autosomal recessive mosaicism biallelic mosaicism disseminated mosaicism epigenetic mosaicism isolated segmental biallelic monoclonal mosaicism lethal mutations surviving in a mosaic |
| title | Categories of Cutaneous Mosaicism |
| title_full | Categories of Cutaneous Mosaicism |
| title_fullStr | Categories of Cutaneous Mosaicism |
| title_full_unstemmed | Categories of Cutaneous Mosaicism |
| title_short | Categories of Cutaneous Mosaicism |
| title_sort | categories of cutaneous mosaicism |
| topic | autosomal recessive mosaicism biallelic mosaicism disseminated mosaicism epigenetic mosaicism isolated segmental biallelic monoclonal mosaicism lethal mutations surviving in a mosaic |
| url | https://doi.org/10.1002/jvc2.70075 |
| work_keys_str_mv | AT rudolfhapple categoriesofcutaneousmosaicism |