Clinical Classification of Mosaicism
ABSTRACT The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others. Mosaic skin abnormalities can present under a segmental pattern or as nonsegmental sk...
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| Format: | Article |
| 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/jvc2.70078 |
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| author | Andrea Diociaiuti Teresa Oranges Eulalia Baselga May El Hachem |
| author_facet | Andrea Diociaiuti Teresa Oranges Eulalia Baselga May El Hachem |
| author_sort | Andrea Diociaiuti |
| collection | DOAJ |
| description | ABSTRACT The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others. Mosaic skin abnormalities can present under a segmental pattern or as nonsegmental skin lesions. Nonsegmental mosaicism, which is most common, includes individual point lesions, tumours, hamartomatous lesions, or malformations, such as melanocytic nevi, Spitz tumours, and sporadic trichoepitheliomas. In some autosomal dominant genodermatoses with multiple skin lesions, a nonsegmental disseminated mosaicism emerges, often associated with neurological or multi‐organ involvement. A patchy skin involvement without midline separation is frequently observed in congenital melanocytic nevi. Segmental mosaicism is less common and presents as asymmetric cutaneous lesions in one or more separate body areas, respecting the body's midline. While the precise mechanisms remain uncertain, these segments possibly reflect clonal expansion of cells during prenatal development. In this article, we provide an overview of the types of mosaicism, discussing their patterns, clinical manifestations, and the varying degrees of severity associated with these conditions. |
| format | Article |
| id | doaj-art-5e8554802c6a427ab2b65d2810f2f68d |
| institution | Kabale University |
| issn | 2768-6566 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | JEADV Clinical Practice |
| spelling | doaj-art-5e8554802c6a427ab2b65d2810f2f68d2025-08-20T03:39:15ZengWileyJEADV Clinical Practice2768-65662025-08-014364665110.1002/jvc2.70078Clinical Classification of MosaicismAndrea Diociaiuti0Teresa Oranges1Eulalia Baselga2May El Hachem3Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital IRCCS Rome ItalyUnit of Dermatology, Department of Pediatrics, Meyer Children's Hospital IRCCS Florence ItalyDepartment of Dermatology Hospital Sant Joan de Deu Barcelona SpainDermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital IRCCS Rome ItalyABSTRACT The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others. Mosaic skin abnormalities can present under a segmental pattern or as nonsegmental skin lesions. Nonsegmental mosaicism, which is most common, includes individual point lesions, tumours, hamartomatous lesions, or malformations, such as melanocytic nevi, Spitz tumours, and sporadic trichoepitheliomas. In some autosomal dominant genodermatoses with multiple skin lesions, a nonsegmental disseminated mosaicism emerges, often associated with neurological or multi‐organ involvement. A patchy skin involvement without midline separation is frequently observed in congenital melanocytic nevi. Segmental mosaicism is less common and presents as asymmetric cutaneous lesions in one or more separate body areas, respecting the body's midline. While the precise mechanisms remain uncertain, these segments possibly reflect clonal expansion of cells during prenatal development. In this article, we provide an overview of the types of mosaicism, discussing their patterns, clinical manifestations, and the varying degrees of severity associated with these conditions.https://doi.org/10.1002/jvc2.70078classificationdidymosispatternrevertant mosaicismsegmental |
| spellingShingle | Andrea Diociaiuti Teresa Oranges Eulalia Baselga May El Hachem Clinical Classification of Mosaicism JEADV Clinical Practice classification didymosis pattern revertant mosaicism segmental |
| title | Clinical Classification of Mosaicism |
| title_full | Clinical Classification of Mosaicism |
| title_fullStr | Clinical Classification of Mosaicism |
| title_full_unstemmed | Clinical Classification of Mosaicism |
| title_short | Clinical Classification of Mosaicism |
| title_sort | clinical classification of mosaicism |
| topic | classification didymosis pattern revertant mosaicism segmental |
| url | https://doi.org/10.1002/jvc2.70078 |
| work_keys_str_mv | AT andreadiociaiuti clinicalclassificationofmosaicism AT teresaoranges clinicalclassificationofmosaicism AT eulaliabaselga clinicalclassificationofmosaicism AT mayelhachem clinicalclassificationofmosaicism |