{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:14:14Z","timestamp":1790615654505,"version":"4.1.0"},"reference-count":75,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,22]],"date-time":"2015-10-22T00:00:00Z","timestamp":1445472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of cutaneous mosaicism. Major categories are genomic versus epigenetic mosaicism and nonsegmental versus segmental mosaicism. The class of\n                      <jats:italic>nonsegmental mosaics<\/jats:italic>\n                      includes\n                      <jats:italic>single point mosaicism<\/jats:italic>\n                      as exemplified by solitary benign or malignant skin tumors;\n                      <jats:italic>disseminated mosaicism<\/jats:italic>\n                      as noted in autosomal dominant tumor syndromes such as neurofibromatosis 1; and\n                      <jats:italic>patchy mosaicism without midline separation<\/jats:italic>\n                      as found in giant melanocytic nevus. The class of\n                      <jats:italic>segmental mosaics<\/jats:italic>\n                      includes\n                      <jats:italic>segmental manifestation of lethal genes surviving by mosaicism<\/jats:italic>\n                      as noted in Proteus syndrome;\n                      <jats:italic>type 1 segmental mosaicism of autosomal dominant skin disorders<\/jats:italic>\n                      reflecting heterozygosity for a postzygotic new mutation;\n                      <jats:italic>type 2 segmental mosaicism of autosomal dominant skin disorders<\/jats:italic>\n                      reflecting loss of heterozygosity that occurred at an early developmental stage in a heterozygous embryo; and\n                      <jats:italic>isolated or superimposed segmental mosaicism of common polygenic skin disorders<\/jats:italic>\n                      such as psoriasis or atopic dermatitis. A particular form of genomic mosaicism is\n                      <jats:italic>didymosis<\/jats:italic>\n                      (twin spotting).\n                      <jats:italic>Revertant mosaicism<\/jats:italic>\n                      is recognizable as one or more areas of healthy skin in patients with epidermolysis bullosa or other serious genodermatoses. The category of\n                      <jats:italic>epigenetic mosaicism<\/jats:italic>\n                      includes several X\u2010linked, male lethal disorders such as incontinentia pigmenti, and the patterns of lyonization as noted in X\u2010linked non\u2010lethal disorders such as hypohidrotic ectodermal dysplasia of the Christ\u2010Siemens\u2010Touraine type. An interesting field of future research will be the concept of\n                      <jats:italic>epigenetic autosomal mosaicism<\/jats:italic>\n                      that may explain some unusual cases of autosomal transmission of linear hypo\u2010 or hypermelanosis. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37439","type":"journal-article","created":{"date-parts":[[2015,10,23]],"date-time":"2015-10-23T14:13:40Z","timestamp":1445609620000},"page":"452-459","source":"Crossref","is-referenced-by-count":103,"title":["The categories of cutaneous mosaicism: A proposed classification"],"prefix":"10.1002","volume":"170","author":[{"given":"Rudolf","family":"Happle","sequence":"first","affiliation":[{"name":"Department of Dermatology Freiburg University Medical Center Freiburg 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