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

Abstract 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 ato...

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Autores principales:	Agata Moar, Manfredo Bruni, Donatella Schena, Erika Rigotti, Chiara Colato, Antonio Novelli, Claudia Cesario, Giampiero Girolomoni
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	atopic dermatitis filaggrin 2 ichthyosis Netherton syndrome SPINK5 trichorrhexis invaginata Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/97c6b71d7b4b4051808801329e7bfb1e
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spelling	oai:doaj.org-article:97c6b71d7b4b4051808801329e7bfb1e2021-12-01T06:36:10ZNetherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient2050-090410.1002/ccr3.5108https://doaj.org/article/97c6b71d7b4b4051808801329e7bfb1e2021-11-01T00:00:00Zhttps://doi.org/10.1002/ccr3.5108https://doaj.org/toc/2050-0904Abstract 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.Agata MoarManfredo BruniDonatella SchenaErika RigottiChiara ColatoAntonio NovelliClaudia CesarioGiampiero GirolomoniWileyarticleatopic dermatitisfilaggrin 2ichthyosisNetherton syndromeSPINK5trichorrhexis invaginataMedicineRMedicine (General)R5-920ENClinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	atopic dermatitis filaggrin 2 ichthyosis Netherton syndrome SPINK5 trichorrhexis invaginata Medicine R Medicine (General) R5-920
spellingShingle	atopic dermatitis filaggrin 2 ichthyosis Netherton syndrome SPINK5 trichorrhexis invaginata Medicine R Medicine (General) R5-920 Agata Moar Manfredo Bruni Donatella Schena Erika Rigotti Chiara Colato Antonio Novelli Claudia Cesario Giampiero Girolomoni Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
description	Abstract 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.
format	article
author	Agata Moar Manfredo Bruni Donatella Schena Erika Rigotti Chiara Colato Antonio Novelli Claudia Cesario Giampiero Girolomoni
author_facet	Agata Moar Manfredo Bruni Donatella Schena Erika Rigotti Chiara Colato Antonio Novelli Claudia Cesario Giampiero Girolomoni
author_sort	Agata Moar
title	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_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_sort	netherton syndrome plus atopic dermatitis: two new genetic mutations in the same patient
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/97c6b71d7b4b4051808801329e7bfb1e
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Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

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