This website provides information on patients with Incontinentia Pigmenti including clinical data, molecular data, management and research options.
The Incontinentia pigmenti (IP) syndrome, also known as Bloch-Sulzberger Syndrome is a clinically heterogeneous and multisystem disorder caused by heterozygous mutations in the X-linked IKBKG/NEMO gene that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males.
While all individuals affected present the characteristic skin rush not all features are present in all individuals with IP.
This website was created to share and collect information about the clinical spectrum, management and research projects to gather more knowledge and provide better treatment of patients with IP.
Matilde Valeria Ursini, Researcher PI, Institute of Genetics and Biophysics "A. Buzzati-Traverso", IGB-CNR, Naples, Italy, matildevaleria.ursini@igb.cnr.it
Francesca Fusco, Researcher, Institute of Genetics and Biophysics "A. Buzzati-Traverso", IGB-CNR, Naples, Italy, francesca.fusco@igb.cnr.it