{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:32:44Z","timestamp":1760149964556,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto Nacional de Pediatr\u00eda"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Tuberous sclerosis complex (TSC) is a genetic disorder, frequently characterized by early dermatological manifestations. The recognition and adequate description of these dermatological manifestations are of utmost importance for early diagnosis, allowing for the implementation of therapeutic and preventive measures. Fibrous cephalic plaques (FCPs) are considered a major diagnostic criterion for TSC, as FCPs are the most specific skin lesions of TSC. The localization, consistency, color, and size of FCPs vary widely, which can cause diagnostic delay, especially in patients with atypical presentations. The present report describes a female TSC patient with a confirmed heterozygous pathogenic genotype, NG_005895.1 (TSC2_v001): c.2640-1G&gt;T, who presented with uncommon large and bilateral FCPs causing bilateral ptosis and marked with hyperostosis of the diploe that generated an asymmetry of the brain parenchyma. Differential diagnoses considered initially in this patient due to the atypical FCPs are described.<\/jats:p>","DOI":"10.3390\/children10101614","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T01:42:12Z","timestamp":1695865332000},"page":"1614","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez-del Angel","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0662-0692","authenticated-orcid":false,"given":"Adriana","family":"Ruiz-Herrera","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital M\u00e9dica Campestre, Le\u00f3n 37180, Guanajuato, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7114-4293","authenticated-orcid":false,"given":"Nancy Leticia","family":"Hern\u00e1ndez-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1850-5774","authenticated-orcid":false,"given":"Carlos G.","family":"Todd-Qui\u00f1ones","sequence":"additional","affiliation":[{"name":"Licenciatura en Ense\u00f1anza y Aprendizaje en Telesecundaria, Benem\u00e9rita Escuela Normal Veracruzana \u201cEnrique C. R\u00e9bsamen\u201d, Xalapa 91017, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4977-4958","authenticated-orcid":false,"given":"Carola","family":"Dur\u00e1n-McKinster","sequence":"additional","affiliation":[{"name":"Departamento de Dermatolog\u00eda, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1142-6296","authenticated-orcid":false,"given":"Patricia","family":"Herrera-Mora","sequence":"additional","affiliation":[{"name":"Departamento de Neurolog\u00eda, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-8214","authenticated-orcid":false,"given":"Miguel Angel","family":"Alc\u00e1ntara-Ortigoza","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.jaad.2017.12.027","article-title":"Fibrous cephalic plaques in tuberous sclerosis complex","volume":"78","author":"Oyerinde","year":"2018","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"International Tuberous Sclerosis Complex Consensus Group. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations","volume":"123","author":"Northrup","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.jaad.2007.05.004","article-title":"Tuberous sclerosis complex: Advances in diagnosis, genetics, and management","volume":"57","author":"Schwartz","year":"2007","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1001\/archderm.1962.01590020049006","article-title":"Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas","volume":"85","author":"Nickel","year":"1962","journal-title":"Arch. 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Dermatol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.12659\/AJCR.907685","article-title":"Encephalocraniocutaneous Lipomatosis: Haberland Syndrome","volume":"18","author":"Saymaz","year":"2017","journal-title":"Am. J. Case Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"28","DOI":"10.4103\/0378-6323.38403","article-title":"Forehead plaque: A cutaneous marker of CNS involvement in tuberous sclerosis","volume":"74","author":"Gopal","year":"2008","journal-title":"Indian. J. Dermatol. Venereol. Leprol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1148\/rg.e32","article-title":"Pictorial review of tuberous sclerosis in various organs","volume":"28","author":"Umeoka","year":"2008","journal-title":"Radiographics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1046\/j.1440-1673.2002.01098.x","article-title":"Tuberous sclerosis: A presentation of less-commonly encountered stigmata","volume":"46","author":"Morris","year":"2002","journal-title":"Australas. Radiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5201402","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype\u2014Phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex","volume":"13","author":"Sancak","year":"2005","journal-title":"Eur. J. Hum. 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