Clinical diagnosis

The clinical diagnosis of IP is based on the presence of dermatological (see section signa and symptoms). Necessary diagnostic insights and investigations are noted for the phenotypic characterization of IP patient in IP protocol (Italian/English). Each survey is related to early identification of damage due to pathology and that if detected early can be treated with appropriate therapeutic approaches.

Molecular diagnosis

Different strategies for IKBKG/NEMO mutation screening procedures are currently applied on genomic DNA extracted from peripheral blood: STEP1, STEP2 and STEP3 are described in the Patent:

Matilde Valeria Ursini, Mariateresa Paciolla, Francesca Fusco e Maria Brigida Lioi.

Patent n.PZ2014A00004, 10 April 2014, title “Kit Diagnostico e Metodo per la diagnosi dell’Incontintinentia pigmenti” Rif. CNR: 10315; supported by “Basilicata Innovazione” (www.basilicatainnovazione.it).