A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings

RHOA‐related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation...

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Autores principales: Cai, Zhuo Ran, McCuaig, Catherine, Hatami, Afshin, Rivière, Jean‐Baptiste, Marcoux, Danielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305257/
https://www.ncbi.nlm.nih.gov/pubmed/35178721
http://dx.doi.org/10.1111/pde.14923
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author Cai, Zhuo Ran
McCuaig, Catherine
Hatami, Afshin
Rivière, Jean‐Baptiste
Marcoux, Danielle
author_facet Cai, Zhuo Ran
McCuaig, Catherine
Hatami, Afshin
Rivière, Jean‐Baptiste
Marcoux, Danielle
author_sort Cai, Zhuo Ran
collection PubMed
description RHOA‐related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic RHOA variant (c.210G>T; p.Arg70Ser). This illustrates that the complexity of the orchestration of morphogenesis and organogenesis can be affected by different variants in the same gene.
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spelling pubmed-93052572022-07-28 A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings Cai, Zhuo Ran McCuaig, Catherine Hatami, Afshin Rivière, Jean‐Baptiste Marcoux, Danielle Pediatr Dermatol Case Reports RHOA‐related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic RHOA variant (c.210G>T; p.Arg70Ser). This illustrates that the complexity of the orchestration of morphogenesis and organogenesis can be affected by different variants in the same gene. John Wiley and Sons Inc. 2022-02-17 2022 /pmc/articles/PMC9305257/ /pubmed/35178721 http://dx.doi.org/10.1111/pde.14923 Text en © 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC. 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 Reports
Cai, Zhuo Ran
McCuaig, Catherine
Hatami, Afshin
Rivière, Jean‐Baptiste
Marcoux, Danielle
A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title_full A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title_fullStr A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title_full_unstemmed A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title_short A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
title_sort novel pathogenic rhoa variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305257/
https://www.ncbi.nlm.nih.gov/pubmed/35178721
http://dx.doi.org/10.1111/pde.14923
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