CLINICAL SYMPTOMS AND DIAGNOSTICS OF A RARE DISEASE: FROM THE PRENATAL PERIOD TO EARLY CHILDHOOD. CLINICAL CASE OF PIGMENTAL DISORDER DISEASE
Summary. Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis that is usually lethal in males before birth. IP is caused by loss-of-function mutations in the IKBKG/NEMO gene, a regulatory protein that activates genes involved in cell survival, inflammation, and immunity .