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Porphyria cutanea tarda

MedGen UID:
56453
•Concept ID:
C0162566
•
Disease or Syndrome
Synonym: Porphyria Cutanea Tarda
SNOMED CT: Porphyria cutanea tarda (61860000); Symptomatic porphyria (61860000); Cutaneous hepatic porphyria (61860000); Porphyria cutanea tarda symptomatica (61860000); Porphyria, hepatocutaneous type (61860000); Urocoproporphyria (61860000); CHP - cutaneous hepatic porphyria (61860000); PCT - porphyria cutanea tarda (61860000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015104
OMIM®: 176100; 613521
Orphanet: ORPHA101330

Definition

Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPorphyria cutanea tarda
Follow this link to review classifications for Porphyria cutanea tarda in Orphanet.

Professional guidelines

PubMed

The porphyrias: advances in diagnosis and treatment.
Balwani M, Desnick RJ
Hematology Am Soc Hematol Educ Program 2012;2012:19-27. doi: 10.1182/asheducation-2012.1.19. PMID: 23233556
Porphyria cutanea tarda: treatment options revisited.
Poh-Fitzpatrick MB
Clin Gastroenterol Hepatol 2012 Dec;10(12):1410-1. Epub 2012 Sep 13 doi: 10.1016/j.cgh.2012.09.005. PMID: 22982098
The porphyrias: advances in diagnosis and treatment.
Balwani M, Desnick RJ
Blood 2012 Nov 29;120(23):4496-504. Epub 2012 Jul 12 doi: 10.1182/blood-2012-05-423186. PMID: 22791288Free PMC Article

Recent clinical studies

Etiology

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Porphyria Cutanea Tarda.
Janssens L, Ji H, Greenlund A
Clin Gastroenterol Hepatol 2021 Sep;19(9):A19. Epub 2020 May 21 doi: 10.1016/j.cgh.2020.05.028. PMID: 32447017
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article

Diagnosis

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
The Porphyrias.
Muschalek W, Hermasch MA, Poblete-Gutiérrez P, Frank J
J Dtsch Dermatol Ges 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743. PMID: 35304965
Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039

Therapy

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Porphyria cutanea tarda: Recent update.
Singal AK
Mol Genet Metab 2019 Nov;128(3):271-281. Epub 2019 Jan 18 doi: 10.1016/j.ymgme.2019.01.004. PMID: 30683557
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Porphyria cutanea tarda.
Fritsch C, Lang K, von Schmiedeberg S, Bolsen K, Merk H, Lehmann P, Ruzicka T
Skin Pharmacol Appl Skin Physiol 1998 Nov-Dec;11(6):321-35. doi: 10.1159/000029855. PMID: 10343203

Prognosis

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039
Update on photodermatoses.
Santoro FA, Lim HW
Semin Cutan Med Surg 2011 Dec;30(4):229-38. doi: 10.1016/j.sder.2011.07.007. PMID: 22123421
Porphyria cutanea tarda.
Bleasel NR, Varigos GA
Australas J Dermatol 2000 Nov;41(4):197-206; quiz 207-8. doi: 10.1046/j.1440-0960.2000.00437.x. PMID: 11105361

Clinical prediction guides

Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Porphyria cutanea tarda: Recent update.
Singal AK
Mol Genet Metab 2019 Nov;128(3):271-281. Epub 2019 Jan 18 doi: 10.1016/j.ymgme.2019.01.004. PMID: 30683557
Porphyria cutanea tarda--when skin meets liver.
Frank J, Poblete-Gutiérrez P
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. PMID: 20955974
Chronic hepatitis C.
Sharara AI
South Med J 1997 Sep;90(9):872-7. doi: 10.1097/00007611-199709000-00002. PMID: 9305294
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Recent systematic reviews

Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis.
Salameh H, Sarairah H, Rizwan M, Kuo YF, Anderson KE, Singal AK
Br J Dermatol 2018 Dec;179(6):1351-1357. Epub 2018 Jul 26 doi: 10.1111/bjd.16741. PMID: 29750336Free PMC Article
Extrahepatic Manifestations of Hepatitis C: A Meta-analysis of Prevalence, Quality of Life, and Economic Burden.
Younossi Z, Park H, Henry L, Adeyemi A, Stepanova M
Gastroenterology 2016 Jun;150(7):1599-1608. Epub 2016 Feb 26 doi: 10.1053/j.gastro.2016.02.039. PMID: 26924097
Skin diseases associated with Agent Orange and other organochlorine exposures.
Patterson AT, Kaffenberger BH, Keller RA, Elston DM
J Am Acad Dermatol 2016 Jan;74(1):143-70. Epub 2015 Jul 22 doi: 10.1016/j.jaad.2015.05.006. PMID: 26210237
Hepatitis C virus infection and lichen planus: a systematic review with meta-analysis.
Lodi G, Pellicano R, Carrozzo M
Oral Dis 2010 Oct;16(7):601-12. doi: 10.1111/j.1601-0825.2010.01670.x. PMID: 20412447
Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis.
Gisbert JP, García-Buey L, Pajares JM, Moreno-Otero R
J Hepatol 2003 Oct;39(4):620-7. doi: 10.1016/s0168-8278(03)00346-5. PMID: 12971974

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