@article{Theodosiou_Theodosiou_Vakirlis_Svensson_2022, title={Incontinentia pigmenti with exudative And pigmentary lesions in the neonatal period.}, volume={32}, url={https://ejpd.com/index.php/journal/article/view/2375}, DOI={10.26326/2281-9649.32.4.2375}, abstractNote={<p class="p1">Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare, complex, multisystem ectodermal dysplasia transmitted with a dominant X-linked trait. It is probably lethal in males, but females survive by random inactivation of the X chromosome (<span class="s1">8</span>). The estimated incidence is 0.7 cases per 100,000 births (<span class="s1">1</span>).<br />IP is caused by mutations in the <em>IKBKG</em> gene (essential modulator of NF-kappaB, formerly known as <em>NEMO</em>), which regulates the expression of numerous genes that control immune and stress responses, inflammatory reaction, adhesion and cell apoptosis (<span class="s1">1</span>-<span class="s1">3</span>).<br />IP is characterized by four successive and often partially overlapping skin stages, namely vesicobullous, warty, hyperpigmented and atrophic. Atrophic lesions represent the only marker of IP in adulthood […].</p>}, number={4}, journal={European Journal of Pediatric Dermatology}, author={Theodosiou, G. and Theodosiou, A. and Vakirlis, E. and Svensson, Å.}, year={2022}, month={Nov.}, pages={233-5} }