A rule concerning the segmental manifestation of autosomal dominant skin disorders: review of clinical examples providing evidence for dichotomous types of severity

R Happle - Archives of dermatology, 1997 - jamanetwork.com
It is well known that autosomal dominant skin disorders may sometimes become manifest in
a mosaic form, involving the body in a linear, patchy, or otherwise circumscribed
arrangement. Such cases can be explained by an early postzygotic mutation. The segmental
lesions usually show the same degree of severity as that found in the corresponding
nonmosaic trait. Occasionally, however, the intensity of involvement observed in the
circumscribed area is far more pronounced. This phenomenon can be explained by …