{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T11:40:37Z","timestamp":1786534837935,"version":"build-2736575974"},"reference-count":11,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Incontinentia pigmenti (IP) is a rare, X-linked dominant genodermatosis caused by mutations in the IKBKG gene and characterized by sequential cutaneous stages following the lines of Blaschko. The highly inflammatory initial vesiculobullous stage frequently mimics severe neonatal infections, such as herpes simplex or bullous impetigo, leading to potentially dangerous diagnostic delays and unnecessary antimicrobial therapies. The objective of this report is to highlight the utility of multimodal medical imaging and clinico-pathologic correlation in the rapid diagnosis of early-stage IP. We present the case of a full-term female neonate presenting on the third day of life with a rapidly disseminating blistering eruption, initially treated as a widespread infectious process. A multimodal diagnostic approach was applied, incorporating bedside clinico-dermoscopic evaluation of the infant and her mother (who reported a history of early miscarriages), followed by neonatal skin biopsy, immunohistochemistry (S-100, MART-1), and subsequent genetic testing. Dermoscopy of the neonate\u2019s transitional lesions revealed early dermal melanophage accumulation, while maternal evaluation exposed pathognomonic residual Blaschko-linear dyspigmentation featuring a distinct \u201cpepper-like\u201d dermoscopic pattern. Histopathology demonstrated classic eosinophilic spongiosis, intraepidermal vesicles, and early pigment incontinence. Genetic testing confirmed recurrent IKBKG exon 4\u201310 deletion. Crucially, this rapid diagnosis facilitated immediate targeted ophthalmologic screening, detecting asymptomatic stage 2B retinal vasculopathy. Integrating noninvasive dermoscopy with precise histopathologic correlation offers a rapid, highly effective framework to distinguish early IP from neonatal blistering infections. Timely multimodal imaging is crucial for triggering immediate multidisciplinary screening, effectively preventing severe, irreversible vision-threatening complications.<\/jats:p>","DOI":"10.3390\/diagnostics16162544","type":"journal-article","created":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T11:02:11Z","timestamp":1786532531000},"page":"2544","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unmasking Incontinentia Pigmenti: A Multimodal Clinico-Dermoscopic and Pathologic Correlation"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9322-629X","authenticated-orcid":false,"given":"Micha\u0142","family":"Nied\u017awied\u017a","sequence":"first","affiliation":[{"name":"Department of Dermatology, Pediatric Dermatology and Oncology, W\u0142. Biega\u0144ski Specialist Hospital, Kniaziewicza 1\/5, 91-347 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Skibi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Pediatric Dermatology and Oncology, W\u0142. Biega\u0144ski Specialist Hospital, Kniaziewicza 1\/5, 91-347 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0653-7533","authenticated-orcid":false,"given":"Marcin","family":"Kurowski","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9150-2074","authenticated-orcid":false,"given":"Katarzyna","family":"Pozna\u0144ska-Kurowska","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Pediatric Dermatology and Oncology, W\u0142. Biega\u0144ski Specialist Hospital, Kniaziewicza 1\/5, 91-347 Lodz, Poland"},{"name":"Nofer Institute of Occupational Medicine, sw. Teresy 8, 91-348 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101156","DOI":"10.1016\/j.spen.2024.101156","article-title":"Incontinentia pigmenti","volume":"51","author":"Rosser","year":"2024","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","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":"ref_3","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1590\/abd1806-4841.20142584","article-title":"Incontinentia pigmenti","volume":"89","author":"Poziomczyk","year":"2014","journal-title":"Bras. Dermatol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"How, K.N., Leong, H.J.Y., Pramono, Z.A.D., Leong, K.F., Lai, Z.W., and Yap, W.H. (2022). Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology. Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.900606"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e2022130","DOI":"10.5826\/dpc.1203a130","article-title":"Dermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions","volume":"12","author":"Minic","year":"2022","journal-title":"Dermatol. Pract. Concept."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.4103\/ijdvl.IJDVL_77_19","article-title":"Dermatoscopic features of incontinentia pigmenti","volume":"86","author":"Bishnoi","year":"2020","journal-title":"Indian J. Dermatol. Venereol. Leprol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"212","DOI":"10.4103\/idoj.idoj_179_24","article-title":"Incontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease","volume":"16","author":"Vijaikumar","year":"2025","journal-title":"Indian Dermatol. Online J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e15734056399655","DOI":"10.2174\/0115734056399655250905074918","article-title":"Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review","volume":"21","author":"Zhang","year":"2025","journal-title":"Curr. Med. Imaging"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1097\/ICU.0000000000000863","article-title":"Incontinentia pigmenti and the eye","volume":"33","author":"Islam","year":"2022","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"571","DOI":"10.4103\/aian.aian_364_24","article-title":"Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti","volume":"27","author":"Ananthasubramanian","year":"2024","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","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":"Ophthalmic Surg. Lasers Imaging Retin."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/16\/2544\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T11:17:09Z","timestamp":1786533429000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/16\/2544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,12]]},"references-count":11,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["diagnostics16162544"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16162544","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,12]]}}}