{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:24:01Z","timestamp":1791469441710,"version":"4.3.4"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:p>Congenital erythropoietic porphyria (CEP) is one of the rarest of porphyrias occurring worldwide. CEP is a very rare genetic autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity, hemolytic anemia with splenomegaly and a decreased life expectancy. We report a case of G\u00fc;nther\u2019s disease in view of its rarity along with a description of this interesting condition. An 18-month-old female baby with clinical, hematological and biochemical profile of CEP was reported with marked skin photosensitivity over face and hands. She had erythrodontia with delayed eruption of teeth. When evaluating erythrodontia of uncertain cause, we advocate maintaining a high degree of awareness for porphyria, especially for CEP as it is the rarest among porphyria and is a life-threatening condition.<\/jats:p>","DOI":"10.4103\/0973-029x.80022","type":"journal-article","created":{"date-parts":[[2011,4,26]],"date-time":"2011-04-26T02:43:10Z","timestamp":1303785790000},"page":"69-73","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":12,"title":["Erythrodontia in congenital erythropoietic porphyria"],"prefix":"10.4103","volume":"15","author":[{"given":"Rashmi","family":"Bhavasar","sequence":"first","affiliation":[{"name":"Department of Oral Pathology and Microbiology, Kamineni Institute of Dental Sciences, Narketpalli, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Santoshkumar","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpalli, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B Rahul","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Kamineni Institute of Dental Sciences, Narketpalli, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20260605","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1176\/appi.ajp.160.3.450","article-title":"Acute porphyrias: A case report and review","volume":"160","author":"Gonzalez \u2013 Arriaza","year":"2003","journal-title":"Am J Psychiatry"},{"key":"R5-20260605","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1016\/0020-711X(93)90683-6","article-title":"Biochemistry of porphyria","volume":"25","author":"Moore","year":"1993","journal-title":"Int J Biochem"},{"key":"R6-20260605","first-page":"155","article-title":"Congenital Erythropoietic Porphyria with hemolytic anemia","volume":"50","author":"Massod","year":"2005","journal-title":"Indian J Dermatol"},{"key":"R8-20260605","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1021\/bi801731q","article-title":"Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability","volume":"48","author":"Fortian","year":"2009","journal-title":"Biochemistry"},{"key":"R9-20260605","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/j.1468-3083.2008.02905.x","article-title":"Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria","volume":"23","author":"Kang","year":"2009","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"R10-20260605","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human Gene Mutation Database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"key":"R11-20260605","first-page":"53","article-title":"Congenital erythropoietic porphyria: Mutation update and correlations between genotype and phenotype","volume":"55","author":"Ged","year":"2009","journal-title":"Cell Mol Biol (Noisy \u2013le-grand)"},{"key":"R13-20260605","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1046\/j.1365-2230.2002.01166.x","article-title":"Congenital erythropoietic porphyria: dilemmas in present day management","volume":"27","author":"Dawe","year":"2002","journal-title":"Clin Exp Dermatol"},{"key":"R14-20260605","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/sj.bmt.1702738","article-title":"Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: A case report and review of the literature","volume":"27","author":"Shaw","year":"2001","journal-title":"Bone Marrow Transplant"},{"key":"R15-20260605","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/j.1399-3046.2007.00842.x","article-title":"Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria","volume":"12","author":"Faraci","year":"2008","journal-title":"Pediatr Transplant"},{"key":"R16-20260605","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1051\/medsci\/20082467615","article-title":"Successful gene therapy of mice with congenital erythropoietic porphyria","volume":"24","author":"de Verneuil","year":"2008","journal-title":"Med Sci (Paris)"}],"container-title":["Journal of Oral and Maxillofacial Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01233803-201115010-00013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:00:25Z","timestamp":1787756425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01233803-201115010-00013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.4103\/0973-029x.80022","relation":{},"ISSN":["0973-029X","1998-393X"],"issn-type":[{"value":"0973-029X","type":"print"},{"value":"1998-393X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1]]}}}