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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

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
Porphyria cutanea tarda. Diagnosis and management.
Grossman ME, Poh-Fitzpatrick MB
Med Clin North Am 1980 Sep;64(5):807-27. doi: 10.1016/s0025-7125(16)31568-1. PMID: 7432042
Treatment of porphyria cutanea tarda by phlebotomy.
Ippen H
Semin Hematol 1977 Apr;14(2):253-9. PMID: 854765

Recent clinical studies

Etiology

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
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
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
Scleroderma-like disorders.
Foti R, Leonardi R, Rondinone R, Di Gangi M, Leonetti C, Canova M, Doria A
Autoimmun Rev 2008 Feb;7(4):331-9. Epub 2008 Jan 11 doi: 10.1016/j.autrev.2007.12.004. PMID: 18295739

Diagnosis

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Porphyria Cutanea Tarda.
Jin MF, Wieland CN
Mayo Clin Proc 2021 May;96(5):1248-1249. doi: 10.1016/j.mayocp.2020.12.025. PMID: 33958055
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
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

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.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
Anti-HCV for porphyria cutanea tarda.
Abdelmaksoud A
Dermatol Ther 2017 May;30(3) Epub 2017 Jan 30 doi: 10.1111/dth.12466. PMID: 28133909
Porphyria cutanea tarda.
Pimstone NR
Semin Liver Dis 1982 May;2(2):132-42. doi: 10.1055/s-2008-1040703. PMID: 6753163
Porphyria cutanea tarda.
Muhlbauer JE, Pathak MA
Int J Dermatol 1979 Dec;18(10):767-80. doi: 10.1111/j.1365-4362.1979.tb04463.x. PMID: 393641

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
Scleroderma-like disorders.
Foti R, Leonardi R, Rondinone R, Di Gangi M, Leonetti C, Canova M, Doria A
Autoimmun Rev 2008 Feb;7(4):331-9. Epub 2008 Jan 11 doi: 10.1016/j.autrev.2007.12.004. PMID: 18295739

Clinical prediction guides

Porphyria Cutanea Tarda Masquerading as Systemic Sclerosis: Two Cases Demonstrating an Important Clinical Observation.
Tkachenko E, Pierson JC, Vleugels RA
J Rheumatol 2021 Jan 1;48(1):145-146. doi: 10.3899/jrheum.190982. PMID: 33386344
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
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Chronic hepatitis C.
Sharara AI
South Med J 1997 Sep;90(9):872-7. doi: 10.1097/00007611-199709000-00002. PMID: 9305294

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
Ultraviolet A phototherapy for sclerotic skin diseases: a systematic review.
Kroft EB, Berkhof NJ, van de Kerkhof PC, Gerritsen RM, de Jong EM
J Am Acad Dermatol 2008 Dec;59(6):1017-30. Epub 2008 Oct 2 doi: 10.1016/j.jaad.2008.07.042. PMID: 18835066
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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