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Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis

Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia–Hafner–Happle syndrome, also known as fibroblast growth fac...

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Autores principales: Mizutani, Yuki, Nagai, Miki, Iwata, Hitoshi, Matsunami, Kunihiro, Seishima, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394286/
https://www.ncbi.nlm.nih.gov/pubmed/34438587
http://dx.doi.org/10.3390/children8080697
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author Mizutani, Yuki
Nagai, Miki
Iwata, Hitoshi
Matsunami, Kunihiro
Seishima, Mariko
author_facet Mizutani, Yuki
Nagai, Miki
Iwata, Hitoshi
Matsunami, Kunihiro
Seishima, Mariko
author_sort Mizutani, Yuki
collection PubMed
description Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia–Hafner–Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy. We present a case of a 9-year-old Japanese boy afflicted with Garcia–Hafner–Happle syndrome associated with dwarfism and atopic dermatitis. We show the results of physical examination, DNA analysis, and imaging studies and discuss the mutation underlying the child’s disorder.
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spelling pubmed-83942862021-08-28 Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis Mizutani, Yuki Nagai, Miki Iwata, Hitoshi Matsunami, Kunihiro Seishima, Mariko Children (Basel) Case Report Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia–Hafner–Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy. We present a case of a 9-year-old Japanese boy afflicted with Garcia–Hafner–Happle syndrome associated with dwarfism and atopic dermatitis. We show the results of physical examination, DNA analysis, and imaging studies and discuss the mutation underlying the child’s disorder. MDPI 2021-08-12 /pmc/articles/PMC8394286/ /pubmed/34438587 http://dx.doi.org/10.3390/children8080697 Text en © 2021 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 Case Report
Mizutani, Yuki
Nagai, Miki
Iwata, Hitoshi
Matsunami, Kunihiro
Seishima, Mariko
Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title_full Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title_fullStr Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title_full_unstemmed Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title_short Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
title_sort epidermal nevus syndrome associated with dwarfism and atopic dermatitis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394286/
https://www.ncbi.nlm.nih.gov/pubmed/34438587
http://dx.doi.org/10.3390/children8080697
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