Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome
Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguis...
| Autores: | , , , , , |
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| Formato: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:266819 |
| Acesso em linha: | https://ddd.uab.cat/record/266819 https://dx.doi.org/urn:doi:10.1111/pde.15116 |
| Access Level: | acceso abierto |
| Palavra-chave: | Cowden syndrome Epidermal nevus Lipoma Macrocephaly Mosaicism type 2 PTEN |
| Resumo: | Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguish it from epidermal nevi seen in similar conditions, such as Proteus syndrome. We present a case of linear Cowden nevus in a 4-year-old boy and review the literature. |
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