Piecing together the puzzle of cutaneous mosaicism

Amy S. Paller*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

35 Scopus citations


Autosomal dominant disorders of the skin may present in a pattern following the lines of embryologic development of the ectoderm. In these cases, the surrounding skin is normal, and molecular studies have shown that the causative mutation is confined to the affected ectodermal tissue (type 1 mosaicism). Rarely, an individual shows skin lesions that follow the pattern of type 1 mosaicism, but the rest of the skin shows a milder form of the disorder (type 2 mosaicism). A new study provides the molecular basis for type 2 mosaicism (see the related article beginning on page 1467).

Original languageEnglish (US)
Pages (from-to)1407-1409
Number of pages3
JournalJournal of Clinical Investigation
Issue number10
StatePublished - Nov 2004

ASJC Scopus subject areas

  • Medicine(all)

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