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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| Format: | Article |
| Language: | English |
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MDPI AG
2021-08-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/8/8/697 |
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| author | Yuki Mizutani Miki Nagai Hitoshi Iwata Kunihiro Matsunami Mariko Seishima |
| author_facet | Yuki Mizutani Miki Nagai Hitoshi Iwata Kunihiro Matsunami Mariko Seishima |
| author_sort | Yuki Mizutani |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T08:54:27Z |
| format | Article |
| id | doaj.art-46f43596a1804cc7a4885c46d7717bed |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T08:54:27Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-46f43596a1804cc7a4885c46d7717bed2023-11-22T07:14:35ZengMDPI AGChildren2227-90672021-08-018869710.3390/children8080697Epidermal Nevus Syndrome Associated with Dwarfism and Atopic DermatitisYuki Mizutani0Miki Nagai1Hitoshi Iwata2Kunihiro Matsunami3Mariko Seishima4Department of Dermatology, Gifu Prefectural General Medical Center, Gifu 500-8717, JapanDepartment of Dermatology, Gifu Prefectural General Medical Center, Gifu 500-8717, JapanDepartment of Pathology, Gifu Prefectural General Medical Center, Gifu 500-8717, JapanDepartment of Pediatrics, Gifu Prefectural General Medical Center, Gifu 500-8717, JapanDepartment of Dermatology, Gifu University Graduate School of Medicine, Gifu 501-1194, JapanEpidermal 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.https://www.mdpi.com/2227-9067/8/8/697epidermal nevus syndromeFGFR3Garcia–Hafner–Happle syndromedwarfismatopic dermatitis |
| spellingShingle | Yuki Mizutani Miki Nagai Hitoshi Iwata Kunihiro Matsunami Mariko Seishima Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis Children epidermal nevus syndrome FGFR3 Garcia–Hafner–Happle syndrome dwarfism 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 | epidermal nevus syndrome FGFR3 Garcia–Hafner–Happle syndrome dwarfism atopic dermatitis |
| url | https://www.mdpi.com/2227-9067/8/8/697 |
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