{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:18:15Z","timestamp":1787836695695,"version":"build-2784847793"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T00:00:00Z","timestamp":1664323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T00:00:00Z","timestamp":1664323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Epidermal nevus syndrome is a group of congenital neuroectodermal and\/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of <jats:italic>PTCH1<\/jats:italic> gene and cerebral infarction is even rarer and has not been reported to the best of our knowledge.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report the case of a 10-month-old Chinese female patient who presented to our pediatric neurologic department, University of Wenzhou medical teaching Hospital, Hangzhou. She has mobility disorders on the right limbs and recurrent seizures. She had congenital disorder accompanied by brownish-black and verrucose plaques on the right side of the face as well as extensive brownish-black plaques and brown nevi on the right side of the trunk and the right arm. Epidermal nevus syndrome was diagnosed on the basis of her symptoms. Somatic sebaceous nevi and hypoplastic defects of skin, cerebra, eyes, skeleton, and cardiovascular and renal system were observed. However, in addition to the typical clinical characteristics, the patient also has a mutation (c.109G\u00a0&gt;\u00a0T) in <jats:italic>PTCH1<\/jats:italic> gene and cerebral infarction. We present a novel case report and literature review.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>To our knowledge, epidermal nevus syndrome with a mutation of <jats:italic>PTCH1<\/jats:italic> gene and cerebral infarction has not been reported previously. This case report may contribute to characterizing the phenotype of epidermal nevus syndrome, help clinicians be aware of the association of this condition with <jats:italic>PTCH1<\/jats:italic> gene and cerebral infarction, raise clinical suspicion, and improve early therapy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-022-03547-9","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T13:04:28Z","timestamp":1664370268000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a  case report and review of the\u00a0literature"],"prefix":"10.1186","volume":"16","author":[{"given":"QingQing","family":"Deng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZhanLi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JieLin","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LingWei","family":"Weng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,9,28]]},"reference":[{"key":"3547_CR1","doi-asserted-by":"publisher","first-page":"2081","DOI":"10.1007\/s00467-011-1949-z","volume":"26","author":"F Alsohim","year":"2011","unstructured":"Alsohim F, Abou-Jaoude P, Ninet J, Pracros JP, Phan A, Cochat P. Bilateral renal artery stenosis and epidermal nevus syndrome in a child. Pediatr Nephrol. 2011;26:2081\u20134.","journal-title":"Pediatr Nephrol"},{"key":"3547_CR2","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1001\/archderm.1968.01610090045007","volume":"97","author":"LM Solomon","year":"1968","unstructured":"Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol. 1968;97:273\u201385.","journal-title":"Arch Dermatol"},{"key":"3547_CR3","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1002\/ajmg.1320470106","volume":"47","author":"TA Grebe","year":"1993","unstructured":"Grebe TA, Rimsza ME, Richter SF, Hansen RC, Hoyme HE. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"343"}}