Discoveries and controversies in cutaneous mosaicism

Marco Castori, Gianluca Tadini

Research output: Contribution to journalArticlepeer-review


Genetic mosaicism is thought to be a common phenomenon in inherited skin disorders. It is the leading molecular mechanism explaining cutaneous hamartomas and nevoid disorders, skin manifestations of most X-linked genodermatoses and specific forms of clinical variability and topographic distribution in autosomal skin disorders. The developmental (in utero) origin and timing dependence are two major attributes for the current definition of cutaneous mosaicism. Chromosomal mosaicism, lyonization in X-linked genodermatoses, and various types of mosaicism (i.e. type 1, type 2 and revertant mosaicism) in autosomal skin disorders are mechanisms well defined at the molecular level. All these concepts have been fully included in the current medical terminology in dermatology and genetics. Mitotic crossing-over, paradominant inheritance, monoallelic expression of autosomal traits and mosaicism in acquired skin disorders remain without a formal molecular proof and still represent sources of debate in the scientific community. This review summarizes current concepts, discoveries and controversies in the field of cutaneous mosaicism for practitioners and clinical researchers to enhance their understanding of such a underestimated clinical phenomenon and its biological basis.

Original languageEnglish
Pages (from-to)251-265
Number of pages15
JournalGiornale Italiano di Dermatologia e Venereologia
Issue number3
Publication statusPublished - Jun 1 2016


  • Genetic diseases
  • Genetic pleiotropy. 
  • Inborn
  • Mosaicism
  • Nevus
  • Skin diseases

ASJC Scopus subject areas

  • Dermatology


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