Center for Inherited Cutaneous Diseases, Institute of Dermatological Science, IRCCS Ospedale Maggiore, via Pace 9, Milan, Italy.
- Page(s) : 142-3
- Année de parution : 1999
In rare instances, patients with autosomal dominant skin disorders such
as actinic porokeratosis and Darier disease, show linear areas of markedly
more severe involvement with respect to the surrounding skin. It has been
hypothesized that this phenomenon is due to an early loss of heterozygosity.
In a heterozygous embryo, a further mutation occurring early in embryonic
life may lead to the formation of a clone of homozygous [...]