{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T16:12:08Z","timestamp":1758125528155,"version":"3.41.2"},"reference-count":28,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:p>Protoporphyria is a subtype of porphyria characterized primarily by painful phototoxic skin reactions after light exposure at specific wavelengths. Historically, phototherapy is not contraindicated in patients with protoporphyria since there have not been any reports of phototoxic reactions. However, patients with protoporphyria are advised to avoid direct sunlight. In this case report, we describe a neonate not known to have X-linked protoporphyria who received phototherapy for 1 to 2 hours. Within hours after initiation of phototherapy, this neonate developed a life-threatening reaction consisting of rash over the distribution of phototherapy, acute liver failure with coagulopathy, diffuse hypotonia with diaphragmatic failure, and subsequent acute respiratory failure that required mechanical ventilation. As in this case, patients with protoporphyria-related acute liver failure can have signs and symptoms similar to that of an acute hepatic porphyria attack. Neither neonatal reactions to phototherapy nor liver failure temporally associated with phototherapy have been reported in patients with X-linked protoporphyria. Early recognition of this entity is crucial in light of potential life-threatening complications. Therefore, providers must react quickly when neonates have abnormal reactions to phototherapy and consider protoporphyria in the differential diagnosis.<\/jats:p>","DOI":"10.1542\/peds.2023-064724","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T08:06:18Z","timestamp":1721981178000},"source":"Crossref","is-referenced-by-count":1,"title":["A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria"],"prefix":"10.1542","volume":"154","author":[{"given":"Jeremy A.","family":"Sandgren","sequence":"first","affiliation":[{"name":"aDivisions of Neonatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moon Ley","family":"Tung","sequence":"additional","affiliation":[{"name":"bMedical Genetics and Genomics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen G.","family":"Berrebi","sequence":"additional","affiliation":[{"name":"cDepartment of Dermatology and Pediatrics, University of Iowa, Iowa City, Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimah N.","family":"Saade","sequence":"additional","affiliation":[{"name":"dPediatric Neurology, Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer R.","family":"Bermick","sequence":"additional","affiliation":[{"name":"aDivisions of Neonatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie S.","family":"Lee","sequence":"additional","affiliation":[{"name":"aDivisions of Neonatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy H.","family":"Stanford","sequence":"additional","affiliation":[{"name":"aDivisions of Neonatology"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2024,7,26]]},"reference":[{"issue":"3","key":"2024080102521386200_B1","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2008.08.003","article-title":"C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload","volume":"83","author":"Whatley","year":"2008","journal-title":"Am J Hum Genet"},{"key":"2024080102521386200_B2","doi-asserted-by":"crossref","first-page":"eRC0256","DOI":"10.31744\/einstein_journal\/2023RC0256","article-title":"Bullous lesions following phototherapy in a newborn","volume":"21","author":"Toscano","year":"2023","journal-title":"Einstein (Sao Paulo)"},{"issue":"3","key":"2024080102521386200_B3","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0009-9120(89)80081-5","article-title":"Hepatobiliary implications and complications in protoporphyria, a 20-year study","volume":"22","author":"Doss","year":"1989","journal-title":"Clin Biochem"},{"issue":"6","key":"2024080102521386200_B4","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1002\/hep.1840180619","article-title":"Evidence for neurological dysfunction in end-stage protoporphyric liver disease","volume":"18","author":"Rank","year":"1993","journal-title":"Hepatology"},{"issue":"7200","key":"2024080102521386200_B5","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/S0140-6736(61)92427-8","article-title":"Erythropoietic protoporphyria. 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