<?xml version="1.0" encoding="UTF-8" standalone="yes"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.2d1 20170631//EN" "JATS-journalpublishing1.dtd">
<article xlink="http://www.w3.org/1999/xlink" dtd-version="1.0" article-type="dermatology" lang="en">
<front>
<journal-meta>
<journal-id journal-id-type="publisher">JOHS</journal-id>
<journal-id journal-id-type="nlm-ta">Journ of Health Scien</journal-id>
<journal-title-group>
<journal-title>Journal of HealthCare Sciences</journal-title>
<abbrev-journal-title abbrev-type="pubmed">Journ of Health Scien</abbrev-journal-title>
</journal-title-group>
<issn pub-type="ppub">2231-2196</issn>
<issn pub-type="opub">0975-5241</issn>
<publisher>
<publisher-name>Radiance Research Academy</publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="publisher-id">293</article-id>
<article-id pub-id-type="doi">http://dx.doi.org/10.52533/JOHS.2024.40908</article-id>
<article-id pub-id-type="doi-url"/>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Dermatology</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Pediatric Neurocutaneous Syndromes: Genetic Mutations, Clinical Features, and Dermatological Manifestations
</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Alyamani</surname>
<given-names>Nawal Rajeh</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alharbi</surname>
<given-names>Noor Mohammed</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alrabee</surname>
<given-names>Hadeel Ayman</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alotaibi</surname>
<given-names>Aseel Mudhhi</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mohamed</surname>
<given-names>Fatima Yaqoob</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alanazi</surname>
<given-names>Abdulrahman Obaid</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Aldosari</surname>
<given-names>Fatmah Abdullah</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alghmdi</surname>
<given-names>Reema Hassan</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alabood</surname>
<given-names>Rand Fahad</given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alanazi</surname>
<given-names>Deema Faleh</given-names>
</name>
</contrib>
</contrib-group>
<pub-date pub-type="ppub">
<day>14</day>
<month>09</month>
<year>2024</year>
</pub-date>
<volume>4</volume>
<issue>9</issue>
<fpage>401</fpage>
<lpage>406</lpage>
<permissions>
<copyright-statement>This article is copyright of Popeye Publishing, 2009</copyright-statement>
<copyright-year>2009</copyright-year>
<license license-type="open-access" href="http://creativecommons.org/licenses/by/4.0/">
<license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution (CC BY 4.0) Licence. You may share and adapt the material, but must give appropriate credit to the source, provide a link to the licence, and indicate if changes were made.</license-p>
</license>
</permissions>
<abstract>
<p>Pediatric neurocutaneous syndromes are a group of genetically inherited disorders characterized by the simultaneous involvement of the skin, nervous system, and other organ systems. These syndromes, which include Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), and Sturge-Weber Syndrome (SWS), arise from specific genetic mutations that disrupt normal cellular processes, leading to a wide range of clinical manifestations. The genetic mutations associated with these syndromes, such as those in the NF1, TSC1, TSC2, and GNAQ genes, result in dysregulated cell growth and differentiation, contributing to the development of tumors, neurological deficits, and distinct dermatological features. Neurological manifestations, including seizures, intellectual disability, and various types of tumors, are often the most debilitating aspects of these syndromes, significantly impacting the quality of life of affected individuals. Early neurological signs, such as optic pathway gliomas in NF1 and cortical tubers in TSC, highlight the importance of early diagnosis and intervention. Dermatological features serve as important diagnostic clues and are often the first indication of an underlying neurocutaneous syndrome. Key skin manifestations, such as caf__ampersandsigneacute;-au-lait macules in NF1, hypomelanotic macules and facial angiofibromas in TSC, and port-wine stains in SWS, provide critical insight into the presence and severity of these conditions. The interplay between genetic mutations and their phenotypic outcomes underscores the complexity of these syndromes and the need for a multidisciplinary approach to management. Understanding the genetic and clinical spectrum of pediatric neurocutaneous syndromes is essential for improving diagnosis, treatment, and patient outcomes. Advances in molecular genetics have not only enhanced our understanding of these disorders but have also led to the development of targeted therapies, offering hope for more effective management and better quality of life for patients and their families.
</p>
</abstract>
<kwd-group>
<kwd>pediatric neurocutaneous syndromes</kwd>
<kwd> genetic mutations</kwd>
<kwd> neurological manifestations</kwd>
<kwd> dermatological features</kwd>
<kwd> targeted therapies</kwd>
</kwd-group>
</article-meta>
</front>
</article>