{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:14:19Z","timestamp":1760235259178,"version":"build-2065373602"},"reference-count":10,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>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\u2013Hafner\u2013Happle 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\u2013Hafner\u2013Happle 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\u2019s disorder.<\/jats:p>","DOI":"10.3390\/children8080697","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T10:54:41Z","timestamp":1628765681000},"page":"697","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis"],"prefix":"10.3390","volume":"8","author":[{"given":"Yuki","family":"Mizutani","sequence":"first","affiliation":[{"name":"Department of Dermatology, Gifu Prefectural General Medical Center, Gifu 500-8717, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Gifu Prefectural General Medical Center, Gifu 500-8717, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"Department of Pathology, Gifu Prefectural General Medical Center, Gifu 500-8717, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiro","family":"Matsunami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu 500-8717, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Seishima","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2010.01.017","article-title":"The group of epidermal nevus syndromes Part I. Well defined phenotypes","volume":"63","author":"Happle","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/S0092-8674(00)81069-7","article-title":"Fibroblast growth factor receptor 3 genes is a negative regulator of bone growth","volume":"84","author":"Deng","year":"1996","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1159\/000297575","article-title":"FGFR3 mutations and the skin: Report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature","volume":"220","author":"Blomberg","year":"2010","journal-title":"Dermatology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1172\/JCI28163","article-title":"Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi","volume":"116","author":"Hafner","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_5","first-page":"2275","article-title":"An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation","volume":"146","author":"Hafner","year":"2008","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Bygum, A., Fagerberg, C.R., Clemmensen, O.J., Fiebig, B., and Hafner, C. (2011). Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. BMC Med. Genet., 5.","DOI":"10.1186\/1471-2350-12-79"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"66","DOI":"10.4103\/1817-1745.131493","article-title":"Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome","volume":"9","author":"Desai","year":"2014","journal-title":"J. Pediatr. Neurosci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1093\/intimm\/dxy015","article-title":"Multipolarity of cytokine axes in the pathogenesis of atopic dermatitis in terms of age, race, species, disease stage and biomarkers","volume":"30","author":"Nomura","year":"2018","journal-title":"Int. Immunol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s13671-017-0199-0","article-title":"Genetic risk factors for development of atopic dermatitis: A systematic review","volume":"6","author":"Yazd","year":"2017","journal-title":"Curr. Derm. Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2721","DOI":"10.1038\/s41598-020-59627-7","article-title":"Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status","volume":"17","author":"Smieszek","year":"2020","journal-title":"Sci. Rep."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/8\/697\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:44:57Z","timestamp":1760165097000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/8\/697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,12]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["children8080697"],"URL":"https:\/\/doi.org\/10.3390\/children8080697","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2021,8,12]]}}}