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Case Report: “Incognito” proteus syndrome

Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker et al. We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque le...

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Autores principales: Vestita, Michelangelo, Filoni, Angela, Arpaia, Nicola, Ettorre, Grazia, Bonamonte, Domenico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843845/
https://www.ncbi.nlm.nih.gov/pubmed/29862018
http://dx.doi.org/10.12688/f1000research.13993.1
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author Vestita, Michelangelo
Filoni, Angela
Arpaia, Nicola
Ettorre, Grazia
Bonamonte, Domenico
author_facet Vestita, Michelangelo
Filoni, Angela
Arpaia, Nicola
Ettorre, Grazia
Bonamonte, Domenico
author_sort Vestita, Michelangelo
collection PubMed
description Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker et al. We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. The patient had a positive history for advanced melanoma and a series of subtle clinical signs, such as asymmetric face, scoliosis, multiple lipomas on the trunk, linear verrucous epidermal nevi, and hyperpigmented macules with a mosaic distribution. Even if the clinical presentation was elusive, she had enough criteria to be diagnosed with PS. This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood, reports its rare association with advanced melanoma, and illustrates the importance of even minor cutaneous clinical signs, especially when atypical, in formulating the diagnosis of a complex cutaneous condition such as this.
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spelling pubmed-58438452018-05-31 Case Report: “Incognito” proteus syndrome Vestita, Michelangelo Filoni, Angela Arpaia, Nicola Ettorre, Grazia Bonamonte, Domenico F1000Res Case Report Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker et al. We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. The patient had a positive history for advanced melanoma and a series of subtle clinical signs, such as asymmetric face, scoliosis, multiple lipomas on the trunk, linear verrucous epidermal nevi, and hyperpigmented macules with a mosaic distribution. Even if the clinical presentation was elusive, she had enough criteria to be diagnosed with PS. This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood, reports its rare association with advanced melanoma, and illustrates the importance of even minor cutaneous clinical signs, especially when atypical, in formulating the diagnosis of a complex cutaneous condition such as this. F1000 Research Limited 2018-02-26 /pmc/articles/PMC5843845/ /pubmed/29862018 http://dx.doi.org/10.12688/f1000research.13993.1 Text en Copyright: © 2018 Vestita M et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Vestita, Michelangelo
Filoni, Angela
Arpaia, Nicola
Ettorre, Grazia
Bonamonte, Domenico
Case Report: “Incognito” proteus syndrome
title Case Report: “Incognito” proteus syndrome
title_full Case Report: “Incognito” proteus syndrome
title_fullStr Case Report: “Incognito” proteus syndrome
title_full_unstemmed Case Report: “Incognito” proteus syndrome
title_short Case Report: “Incognito” proteus syndrome
title_sort case report: “incognito” proteus syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843845/
https://www.ncbi.nlm.nih.gov/pubmed/29862018
http://dx.doi.org/10.12688/f1000research.13993.1
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