{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:24:50Z","timestamp":1787765090539,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-\u03baB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1\n                    <jats:sup>st<\/jats:sup>\n                    year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.\n                  <\/jats:p>","DOI":"10.4103\/apc.apc_75_23","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T04:01:27Z","timestamp":1704427287000},"page":"297-300","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report"],"prefix":"10.4103","volume":"16","author":[{"given":"Marta","family":"Marcia","sequence":"first","affiliation":[{"name":"Division of Pediatric Cardiology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Coppo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dermatology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe Alberto","family":"Annoni","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetana","family":"Ferraro","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Agnoletti","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe Antonio","family":"Mazza","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, City of Health and Science Hospital, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,1,5]]},"reference":[{"key":"R1-20240901","doi-asserted-by":"crossref","first-page":"2371","DOI":"10.1093\/hmg\/11.20.2371","article-title":"The NF-kappaB signalling pathway in human diseases:From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes","volume":"11","author":"Smahi","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R2-20240901","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1016\/j.pedhc.2017.07.003","article-title":"Incontinentia pigmenti:A summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols","volume":"31","author":"Greene-Roethke","year":"2017","journal-title":"J Pediatr Health Care"},{"key":"R3-20240901","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1046\/j.1525-1470.2001.018001054.x","article-title":"Incontinentia pigmenti:A case associated with cardiovascular anomalies","volume":"18","author":"Miteva","year":"2001","journal-title":"Pediatr Dermatol"},{"key":"R4-20240901","doi-asserted-by":"crossref","first-page":"629","DOI":"10.2147\/TCRM.S134705","article-title":"Pulmonary hypertension and vasculopathy in incontinentia pigmenti:A case report","volume":"13","author":"Alshenqiti","year":"2017","journal-title":"Ther Clin Risk Manag"},{"key":"R5-20240901","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/ijd.13835","article-title":"Cardiopulmonary anomalies in incontinentia pigmenti patients","volume":"57","author":"Onnis","year":"2018","journal-title":"Int J Dermatol"},{"key":"R6-20240901","first-page":"773","article-title":"Cerebral complications of incontinentia pigmenti. A clinicopathological study of a case","volume":"148","author":"Triki","year":"1992","journal-title":"Rev Neurol (Paris)"},{"key":"R7-20240901","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/ajmg.a.30698","article-title":"Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti","volume":"135","author":"Hayes","year":"2005","journal-title":"Am J Med Genet A"},{"key":"R8-20240901","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/sj.jp.7211250","article-title":"Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn:A case report","volume":"25","author":"Godambe","year":"2005","journal-title":"J Perinatol"},{"key":"R9-20240901","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/ped.12831","article-title":"Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti","volume":"58","author":"Yasuda","year":"2016","journal-title":"Pediatr Int"},{"key":"R10-20240901","doi-asserted-by":"crossref","first-page":"2045894018793983","DOI":"10.1177\/2045894018793983","article-title":"A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti","volume":"8","author":"Atallah","year":"2018","journal-title":"Pulm Circ"},{"key":"R11-20240901","doi-asserted-by":"crossref","first-page":"103764","DOI":"10.1016\/j.ejmg.2019.103764","article-title":"A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension","volume":"63","author":"Mizuno","year":"2020","journal-title":"Eur J Med Genet"},{"key":"R12-20240901","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1124\/mol.64.4.923","article-title":"Role for nuclear factor-kappaB and signal transducer and activator of transcription 1\/interferon regulatory factor-1 in cytokine-induced endothelin-1 release in human vascular smooth muscle cells","volume":"64","author":"Woods","year":"2003","journal-title":"Mol Pharmacol"}],"container-title":["Annals of Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/apc.apc_75_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:01:19Z","timestamp":1787763679000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/apc.apc_75_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/apc.apc_75_23","relation":{},"ISSN":["0974-2069","0974-5149"],"issn-type":[{"value":"0974-2069","type":"print"},{"value":"0974-5149","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"2023-05-27","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-22","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}