Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

Mosaicism refers to the presence in an individual of normal and abnormal cells that are
genotypically distinct and are derived from a single zygote. The incidence of mosaicism …

De novo somatic mutations in focal areas are well documented in diseases such as
neoplasia but are rarely reported in malformation of the developing brain …

Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …

Somatic evolution of cells within the body is well known to lead to cancers. However, spread
of somatic mutations within a tissue over time may also contribute to the pathogenesis of non …

Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction
of a pathogenic gene mutation in a somatic cell. It has been observed in several genetic …

Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction
of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event …

Genetic skin fragility manifests with diminished resistance of the skin and mucous
membranes to external mechanical forces and with skin blistering, erosions, and painful …

Background Epidermolysis bullosa (EB) is a group of genetic blistering diseases. Despite
many efforts, treatment for EB remains symptomatic. Revertant mosaicism, coexistence of …

Widespread reversion of genetic disease is rare; however, such events are particularly
evident in some skin disorders in which normal clones develop on a background of affected …