{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T22:22:26Z","timestamp":1788733346113,"version":"build-2803163510"},"reference-count":75,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T00:00:00Z","timestamp":1662422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4\u201310 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (<jats:italic>IKBKG)<\/jats:italic> gene located at the Xq28 chromosomal region, which encodes for NEMO\/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-\u03baB) signaling pathway. NF-\u03baB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation. <jats:italic>IKBKG<\/jats:italic> mutation that results in a loss-of-function or dysregulated NF-\u03baB pathway contributes to the pathophysiology of IP. Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected. To date, the clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity. Thus, genetic findings remain an essential tool in diagnosing IP, and understanding its genetic profile allows a greater possibility for personalized treatment. IP is slowly and gradually gaining attention in research, but there is much that remains to be understood. This review highlights the progress that has been made in IP including the different types of mutations detected in various populations, current diagnostic strategies, <jats:italic>IKBKG<\/jats:italic> pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.<\/jats:p>","DOI":"10.3389\/fped.2022.900606","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T05:29:26Z","timestamp":1662442166000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":23,"title":["Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology"],"prefix":"10.3389","volume":"10","author":[{"given":"Kang Nien","family":"How","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazel Jing Yi","family":"Leong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zacharias Aloysius Dwi","family":"Pramono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kin Fon","family":"Leong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zee Wei","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei Hsum","family":"Yap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,9,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1111\/jdv.16403","article-title":"Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti","volume":"34","author":"Bodemer","year":"2020","journal-title":"J Eur Acad Dermatol Venereol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1002\/ajmg.a.61045","article-title":"Ectodermal dysplasias: classification and organization by phenotype, genotype and molecular pathway","volume":"179","author":"Wright","year":"2019","journal-title":"Am J Med Genet A."},{"key":"B3","doi-asserted-by":"publisher","first-page":"650","DOI":"10.3928\/23258160-20150610-09","article-title":"Incontinentia pigmenti: a comprehensive review and update","volume":"46","author":"Swinney","year":"2015","journal-title":"Ophthal Surg Lasers Imaging Retina."},{"key":"B4","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/B978-0-444-62702-5.00020-2","article-title":"Incontinentia pigmenti (Bloch\u2013Sulzberger syndrome)","volume":"132","author":"Narayanan","year":"2015","journal-title":"Neurocutaneous Syndromes."},{"key":"B5","unstructured":"Prevalence of Rare Disease: Bibliographic Data Rare Disease Collection. 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