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By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild\u2010type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non\u2010segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an <jats:italic>extracutaneous<\/jats:italic> manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.<\/jats:p>","DOI":"10.1111\/jdv.14838","type":"journal-article","created":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T11:36:38Z","timestamp":1517916998000},"page":"1075-1088","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine"],"prefix":"10.1111","volume":"32","author":[{"given":"R.","family":"Happle","sequence":"first","affiliation":[{"name":"Department of Dermatology Medical Center University of Freiburg Freiburg 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