Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manif...

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Autores principales: Moar, Agata, Bruni, Manfredo, Schena, Donatella, Rigotti, Erika, Colato, Chiara, Novelli, Antonio, Cesario, Claudia, Girolomoni, Giampiero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8614091/
https://www.ncbi.nlm.nih.gov/pubmed/34853685
http://dx.doi.org/10.1002/ccr3.5108
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author Moar, Agata
Bruni, Manfredo
Schena, Donatella
Rigotti, Erika
Colato, Chiara
Novelli, Antonio
Cesario, Claudia
Girolomoni, Giampiero
author_facet Moar, Agata
Bruni, Manfredo
Schena, Donatella
Rigotti, Erika
Colato, Chiara
Novelli, Antonio
Cesario, Claudia
Girolomoni, Giampiero
author_sort Moar, Agata
collection PubMed
description A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations.
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spelling pubmed-86140912021-11-30 Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient Moar, Agata Bruni, Manfredo Schena, Donatella Rigotti, Erika Colato, Chiara Novelli, Antonio Cesario, Claudia Girolomoni, Giampiero Clin Case Rep Case Report A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations. John Wiley and Sons Inc. 2021-11-25 /pmc/articles/PMC8614091/ /pubmed/34853685 http://dx.doi.org/10.1002/ccr3.5108 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Moar, Agata
Bruni, Manfredo
Schena, Donatella
Rigotti, Erika
Colato, Chiara
Novelli, Antonio
Cesario, Claudia
Girolomoni, Giampiero
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title_full Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title_fullStr Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title_full_unstemmed Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title_short Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
title_sort netherton syndrome plus atopic dermatitis: two new genetic mutations in the same patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8614091/
https://www.ncbi.nlm.nih.gov/pubmed/34853685
http://dx.doi.org/10.1002/ccr3.5108
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