{"id":901,"date":"2023-01-05T21:38:50","date_gmt":"2023-01-06T02:38:50","guid":{"rendered":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/?post_type=chapter&p=901"},"modified":"2023-01-13T14:09:54","modified_gmt":"2023-01-13T19:09:54","slug":"genodermatoses-x-linked-dominant-disorders","status":"web-only","type":"chapter","link":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/chapter\/genodermatoses-x-linked-dominant-disorders\/","title":{"raw":"Genodermatoses: X-linked Dominant Disorders","rendered":"Genodermatoses: X-linked Dominant Disorders"},"content":{"raw":"
\r\n

X-linked Dominant Disorders<\/h1>\r\n<\/div>\r\n
\r\n
\r\n\r\nA few conditions present in X-linked dominant form.\u00a0 These conditions are generally only seen in girls as the mutations are usually lethal in developing boys who have only the affected copy of the X gene. Boys can rarely be affected if they have a post-zygotic mutation or have an XXY genotype.\u00a0 In girls, the skin findings often present with lines\/swirls that represent lyonization, the process by which one X chromosome is activated in any given cell.\r\n\r\n<\/div>\r\n
\r\n\r\nIncontinentia pigmenti<\/strong> is caused by mutations in the NEMO gene, which helps to regular apoptosis. There are 4 phases of IP that occur in the skin in roughly sequential order, though the path is not entirely linear and conditions such as illness may shift the skin toward an \u201cearlier\u201d phase.\r\n\r\n<\/div>\r\n
\r\n
    \r\n \t
  1. \u00a0Blistering<\/li>\r\n \t
  2. Verrucous plaques<\/li>\r\n \t
  3. Hyperpigmentation<\/li>\r\n \t
  4. Hypopigmentation<\/li>\r\n<\/ol>\r\n<\/div>\r\n
    Children with IP may have ophthalmologic, neurologic and dental changes, so referral to these specialties is recommended.<\/span><\/div>\r\n<\/div>\r\n
    <\/div>\r\n
    <\/div>\r\n
    Hover over image for caption.<\/strong><\/em><\/div>\r\n
    [h5p id=\"110\"]<\/div>","rendered":"
    \n

    X-linked Dominant Disorders<\/h1>\n<\/div>\n
    \n
    \n

    A few conditions present in X-linked dominant form.\u00a0 These conditions are generally only seen in girls as the mutations are usually lethal in developing boys who have only the affected copy of the X gene. Boys can rarely be affected if they have a post-zygotic mutation or have an XXY genotype.\u00a0 In girls, the skin findings often present with lines\/swirls that represent lyonization, the process by which one X chromosome is activated in any given cell.<\/p>\n<\/div>\n

    \n

    Incontinentia pigmenti<\/strong> is caused by mutations in the NEMO gene, which helps to regular apoptosis. There are 4 phases of IP that occur in the skin in roughly sequential order, though the path is not entirely linear and conditions such as illness may shift the skin toward an \u201cearlier\u201d phase.<\/p>\n<\/div>\n

    \n
      \n
    1. \u00a0Blistering<\/li>\n
    2. Verrucous plaques<\/li>\n
    3. Hyperpigmentation<\/li>\n
    4. Hypopigmentation<\/li>\n<\/ol>\n<\/div>\n
      Children with IP may have ophthalmologic, neurologic and dental changes, so referral to these specialties is recommended.<\/span><\/div>\n<\/div>\n
      <\/div>\n
      <\/div>\n
      Hover over image for caption.<\/strong><\/em><\/div>\n
      \n
      \n
      <\/div>\n<\/div>\n<\/div>\n","protected":false},"author":1682,"menu_order":8,"template":"","meta":{"pb_show_title":"on","pb_short_title":"","pb_subtitle":"","pb_authors":[],"pb_section_license":""},"chapter-type":[],"contributor":[],"license":[],"class_list":["post-901","chapter","type-chapter","status-web-only","hentry"],"part":885,"_links":{"self":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapters\/901","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapters"}],"about":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/wp\/v2\/types\/chapter"}],"author":[{"embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/wp\/v2\/users\/1682"}],"version-history":[{"count":5,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapters\/901\/revisions"}],"predecessor-version":[{"id":1420,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapters\/901\/revisions\/1420"}],"part":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/parts\/885"}],"metadata":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapters\/901\/metadata\/"}],"wp:attachment":[{"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/wp\/v2\/media?parent=901"}],"wp:term":[{"taxonomy":"chapter-type","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/pressbooks\/v2\/chapter-type?post=901"},{"taxonomy":"contributor","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/wp\/v2\/contributor?post=901"},{"taxonomy":"license","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pedsdermprimer\/wp-json\/wp\/v2\/license?post=901"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}