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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8394286 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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