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Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias

We report on a cohort of 204 children referred between January 2017 and January 2022 to the German Center for Ectodermal Dysplasias, Erlangen. The most frequent reasons for referral were tooth malformations and lack of multiple teeth leading to the suspicion of an ectodermal dysplasia. Many patients...

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Autores principales: Maier-Wohlfart, Sigrun, Aicher, Carmen, Willershausen, Ines, Peschel, Nicolai, Meißner, Udo, Gölz, Lina, Schneider, Holm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690587/
https://www.ncbi.nlm.nih.gov/pubmed/36421794
http://dx.doi.org/10.3390/genes13112119
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author Maier-Wohlfart, Sigrun
Aicher, Carmen
Willershausen, Ines
Peschel, Nicolai
Meißner, Udo
Gölz, Lina
Schneider, Holm
author_facet Maier-Wohlfart, Sigrun
Aicher, Carmen
Willershausen, Ines
Peschel, Nicolai
Meißner, Udo
Gölz, Lina
Schneider, Holm
author_sort Maier-Wohlfart, Sigrun
collection PubMed
description We report on a cohort of 204 children referred between January 2017 and January 2022 to the German Center for Ectodermal Dysplasias, Erlangen. The most frequent reasons for referral were tooth malformations and lack of multiple teeth leading to the suspicion of an ectodermal dysplasia. Many patients also suffered from being unable to perspire. Nail abnormalities, in contrast, represented a much rarer finding, albeit the impact on some individuals was large. As ectodermal dysplasias are congenital genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands, we analyzed congenital nail disorders detected in these patients. Dystrophic or otherwise abnormal nails were evident in 17 of 18 subjects with pathogenic WNT10A or GJB6 variants but in none of 161 children with EDA variants underlying X-linked hypohidrotic ectodermal dysplasia. However, 2 of 17 children who carry mutations in EDAR or EDARADD, two other genes involved in the ectodysplasin A signaling pathway, showed nail abnormalities, such as brittle or hypoplastic nails. TP63 variants were regularly associated with nail disorders. In one girl, anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed. Thus, nail dysplasia is rarer among patients with ectodermal dysplasia than commonly thought.
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spelling pubmed-96905872022-11-25 Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias Maier-Wohlfart, Sigrun Aicher, Carmen Willershausen, Ines Peschel, Nicolai Meißner, Udo Gölz, Lina Schneider, Holm Genes (Basel) Article We report on a cohort of 204 children referred between January 2017 and January 2022 to the German Center for Ectodermal Dysplasias, Erlangen. The most frequent reasons for referral were tooth malformations and lack of multiple teeth leading to the suspicion of an ectodermal dysplasia. Many patients also suffered from being unable to perspire. Nail abnormalities, in contrast, represented a much rarer finding, albeit the impact on some individuals was large. As ectodermal dysplasias are congenital genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands, we analyzed congenital nail disorders detected in these patients. Dystrophic or otherwise abnormal nails were evident in 17 of 18 subjects with pathogenic WNT10A or GJB6 variants but in none of 161 children with EDA variants underlying X-linked hypohidrotic ectodermal dysplasia. However, 2 of 17 children who carry mutations in EDAR or EDARADD, two other genes involved in the ectodysplasin A signaling pathway, showed nail abnormalities, such as brittle or hypoplastic nails. TP63 variants were regularly associated with nail disorders. In one girl, anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed. Thus, nail dysplasia is rarer among patients with ectodermal dysplasia than commonly thought. MDPI 2022-11-15 /pmc/articles/PMC9690587/ /pubmed/36421794 http://dx.doi.org/10.3390/genes13112119 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Maier-Wohlfart, Sigrun
Aicher, Carmen
Willershausen, Ines
Peschel, Nicolai
Meißner, Udo
Gölz, Lina
Schneider, Holm
Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title_full Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title_fullStr Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title_full_unstemmed Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title_short Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
title_sort congenital nail disorders among children with suspected ectodermal dysplasias
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690587/
https://www.ncbi.nlm.nih.gov/pubmed/36421794
http://dx.doi.org/10.3390/genes13112119
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