Article
[Incontinentia pigmenti: three new cases that demonstrate it is not only a matter of women].
Actas dermo-sifiliograficas - 1 Mar 2007
Feito-Rodríguez M, García-Macarrón J, Bravo-Burguillos E Ruiz, Vera-Casaño A, de Lucas-Laguna R
Abstract excerpt
Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 %...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
