{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:13:06Z","timestamp":1790727186902,"version":"4.1.0"},"reference-count":108,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T00:00:00Z","timestamp":1384992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ijd.12305","type":"journal-article","created":{"date-parts":[[2013,11,22]],"date-time":"2013-11-22T02:18:23Z","timestamp":1385086703000},"page":"1464-1480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology"],"prefix":"10.1111","volume":"52","author":[{"given":"Mary E.","family":"Horner","sequence":"first","affiliation":[{"name":"Department of Dermatology Baylor University Medical Center Dallas TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Alikhan","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Tintle","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tufts Medical Center Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Tortorelli","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn Marie R.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Hand","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652308784746477"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.02754.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9125"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000029854"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1996.tb00122.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06978.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(97)80241-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06120.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<22::AID-AJMG6>3.0.CO;2-K"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053337"},{"key":"e_1_2_8_12_1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1742-1241.1993.tb10381.x","article-title":"The acute porphyrias","volume":"47","author":"Lip GY","year":"1993","journal-title":"Br J Clin Pract"},{"key":"e_1_2_8_13_1","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1007\/BF03402215","article-title":"Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients","volume":"7","author":"Fraunberg M","year":"2001","journal-title":"Mol Med"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06085-R"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1179\/135100009X392502"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.01705.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1007137"},{"key":"e_1_2_8_18_1","first-page":"125","article-title":"Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation","volume":"101","author":"Gorman CS","year":"2008","journal-title":"Ir Med J"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(00)00159-4"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/320118"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0092-z"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-960173"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.117432"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01153.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2004.00163.x"},{"key":"e_1_2_8_26_1","first-page":"254","article-title":"Porphyria cutanea tarda as the most common porphyria","volume":"15","author":"Bulat V","year":"2007","journal-title":"Acta Dermatovenerol Croat"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-0960.2000.00437.x"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1013746828074"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1080\/00015550510033688"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0738-081X(99)00029-2"},{"key":"e_1_2_8_31_1","first-page":"237","article-title":"Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature","volume":"71","author":"Cassiman D","year":"2008","journal-title":"Acta Gastroenterol Belg"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0738-081X(97)00206-X"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199608000-00022"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510270142"},{"key":"e_1_2_8_35_1","first-page":"109","article-title":"Hemochromatosis and porphyria","volume":"13","author":"Lambrecht RW","year":"2002","journal-title":"Semin Gastrointest Dis"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(02)00276-0"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(03)00399-4"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70402-0"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(03)00346-5"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0781.1997.tb00116.x"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1997.03890450122020"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2143(97)90096-2"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2003.00095.x"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000415"},{"key":"e_1_2_8_45_1","unstructured":"American Porphyria Foundation History of Porphyria. The American Porphyria Foundation Houston 2010.http:\/\/www.porphyriafoundation.com\/about-porphyria\/history-of-porphyria. (Accessed June 21 2013)."},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.4.459"},{"key":"e_1_2_8_47_1","first-page":"276","article-title":"Clinical spectrum of porphyria cutanea tarda","volume":"84","author":"Brazzelli V","year":"1999","journal-title":"Haematologica"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.134.10.1305"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2000.105504"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2000.111338"},{"key":"e_1_2_8_51_1","first-page":"111","article-title":"Hepatocellular carcinoma presenting with acquired porphyria: a case report and review of the literature","volume":"22","author":"Huang WS","year":"1999","journal-title":"Changgeng Yi Xue Za Zhi"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a009745"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.meg.0000108318.52416.c9"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2002.04591.x"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1159\/000029855"},{"key":"e_1_2_8_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2008.03049.x"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701362"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.76.10.592"},{"key":"e_1_2_8_59_1","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1093\/clinchem\/40.11.2026","article-title":"High\u2010performance thin\u2010layer chromatography of free porphyrins for diagnosis of porphyria","volume":"40","author":"Lai CK","year":"1994","journal-title":"Clin Chem"},{"key":"e_1_2_8_60_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199602000-00004"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/0738-081X(93)90107-N"},{"key":"e_1_2_8_62_1","doi-asserted-by":"crossref","first-page":"426","DOI":"10.2340\/00015555-0477","article-title":"Pseudoporphyria or porphyria cutanea tarda? Diagnostic and treatment difficulties","volume":"88","author":"Fevang SA","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_8_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/1357-2725(95)00017-J"},{"key":"e_1_2_8_64_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06101.x"},{"key":"e_1_2_8_65_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-199801000-00011"},{"key":"e_1_2_8_66_1","first-page":"99","article-title":"Erythropoietic protoporphyria patients in Slovenia","volume":"16","author":"Marko PB","year":"2007","journal-title":"Acta Dermatovenerol Alp Panonica Adriat"},{"key":"e_1_2_8_67_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2002.04876.x"},{"key":"e_1_2_8_68_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08580.x"},{"key":"e_1_2_8_69_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0781.2002.00009.x"},{"key":"e_1_2_8_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2012.07.032"},{"key":"e_1_2_8_71_1","doi-asserted-by":"publisher","DOI":"10.1159\/000081490"},{"key":"e_1_2_8_72_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01560.x"},{"key":"e_1_2_8_73_1","first-page":"1009","article-title":"Liver disease in erythropoietic protoporphyria: insights and implications for management","volume":"56","author":"Anstey AV","year":"2007","journal-title":"Gut"},{"key":"e_1_2_8_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700924"},{"key":"e_1_2_8_75_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2009.010"},{"key":"e_1_2_8_76_1","doi-asserted-by":"publisher","DOI":"10.1086\/498620"},{"key":"e_1_2_8_77_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00733.x"},{"key":"e_1_2_8_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07472.x"},{"key":"e_1_2_8_79_1","doi-asserted-by":"crossref","first-page":"3980","DOI":"10.1182\/blood.V91.10.3980","article-title":"Examination of ferrochelatase mutations that cause erythropoietic protoporphyria","volume":"91","author":"Sellers VM","year":"1998","journal-title":"Blood"},{"key":"e_1_2_8_80_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-04-088120"},{"key":"e_1_2_8_81_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.143.9.1125"},{"key":"e_1_2_8_82_1","doi-asserted-by":"publisher","DOI":"10.1007\/s005350050284"},{"key":"e_1_2_8_83_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005317124985"},{"key":"e_1_2_8_84_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2007.00386.x"},{"key":"e_1_2_8_85_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00676.x"},{"issue":"2","key":"e_1_2_8_86_1","first-page":"S155","article-title":"The difficult clinical diagnosis of erythropoietic protoporphyria","volume":"55","author":"Wahlin S","year":"2006","journal-title":"Physiol Res"},{"key":"e_1_2_8_87_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2000.107498"},{"key":"e_1_2_8_88_1","doi-asserted-by":"publisher","DOI":"10.1159\/000029857"},{"key":"e_1_2_8_89_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05726.x"},{"key":"e_1_2_8_90_1","first-page":"53","article-title":"Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype","volume":"55","author":"Ged C","year":"2009","journal-title":"Cell Mol Biol (Noisy\u2010le\u2010grand)"},{"key":"e_1_2_8_91_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10642"},{"key":"e_1_2_8_92_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117742"},{"key":"e_1_2_8_93_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8"},{"key":"e_1_2_8_94_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005645624262"},{"key":"e_1_2_8_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(97)70249-4"},{"key":"e_1_2_8_96_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-198912000-00012"},{"key":"e_1_2_8_97_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.85.3.371"},{"key":"e_1_2_8_98_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.491"},{"key":"e_1_2_8_99_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1011-1344(01)00228-7"},{"key":"e_1_2_8_100_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91762-X"},{"key":"e_1_2_8_101_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1007141"},{"key":"e_1_2_8_102_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.03369.x"},{"key":"e_1_2_8_103_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004280100401"},{"key":"e_1_2_8_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)70154-9"},{"key":"e_1_2_8_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1085-5629(99)80027-3"},{"key":"e_1_2_8_106_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06289.x"},{"key":"e_1_2_8_107_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.320.7250.1647"},{"key":"e_1_2_8_108_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-8050-3"},{"key":"e_1_2_8_109_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0738-081X(97)00201-0"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T04:30:48Z","timestamp":1696307448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,21]]},"references-count":108,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/ijd.12305"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12305","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,21]]},"assertion":[{"value":"2013-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}