[HTML][HTML] Piecing together the puzzle of cutaneous mosaicism

AS Paller - The Journal of clinical investigation, 2004 - Am Soc Clin Investig
AS Paller
The Journal of clinical investigation, 2004Am Soc Clin Investig
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.
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 .
The Journal of Clinical Investigation