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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Main Authors: Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem
Format: Article
Language:English
Published: Wiley 2025-08-01
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.
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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
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