title: Cutaneous mosaicism: right before our eyes.
abstract: Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in non-Herlitz junctional EB can be corrected in vivo by multiple spontaneously occurring somatic mutational events, a phenomenon known as revertant mosaicism (see the related article beginning on page 1240). These insights open new avenues of thinking for the design of future gene therapy strategies for skin diseases.
authors.affiliation: Department of Dermatology and Maastricht University Centre for Molecular Dermatology, University Hospital, P. Debyelaan 25, 6202 AZ Maastricht, The Netherlands. jfra@sder.azm.nl
authors.forename: Jorge
authors.initials: J
authors.lastname: Frank
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
mesh_terms: D000818:Animals; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000628:therapy*; D015316:Genetic Therapy; D006801:Humans; D009030:Mosaicism; D012075:Remission, Spontaneous