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Sporadic porphyria cutanea tarda

MedGen UID:
357391
Concept ID:
C1867968
Disease or Syndrome
Synonyms: PCT, ''SPORADIC'' TYPE; PCT, TYPE I; Porphyria cutanea tarda, type I
SNOMED CT: Sporadic porphyria cutanea tarda (402479002); Acquired hepatic porphyria (402479002)
Modes of inheritance:
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.
 
Monarch Initiative: MONDO:0008295
OMIM®: 176090
Orphanet: ORPHA443057

Definition

De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007). [from OMIM]

Clinical features

From HPO
Porphyrinuria
MedGen UID:
57493
Concept ID:
C0151861
Disease or Syndrome
Abnormally increased excretion of porphyrins in the urine.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Addictive alcohol use
MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Alcohol dependence is a common complex behavioral disorder with both environmental and genetic contributions. Epidemiologic studies suggest that genetic effects account for 40 to 60% of the variance in risk (summary by Kalsi et al., 2010).
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSporadic porphyria cutanea tarda

Professional guidelines

PubMed

González-Estrada A, Gomez-Morales LB, Gonzalez-Estrada A, García-Morillo JS
Eur J Intern Med 2014 Jul;25(6):e76-7. Epub 2014 Mar 12 doi: 10.1016/j.ejim.2014.02.009. PMID: 24630799
Mascaro JM, Herrero C
Arch Dermatol 2003 Mar;139(3):379-80. doi: 10.1001/archderm.139.3.379. PMID: 12622638

Recent clinical studies

Etiology

Muñoz-Santos C, Guilabert A, Moreno N, To-Figueras J, Badenas C, Darwich E, Herrero C
Medicine (Baltimore) 2010 Mar;89(2):69-74. doi: 10.1097/MD.0b013e3181d50928. PMID: 20517178
Cassiman D, Vannoote J, Roelandts R, Libbrecht L, Roskams T, Van den Oord J, Fevery J, Garmyn M, Nevens F
Acta Gastroenterol Belg 2008 Apr-Jun;71(2):237-42. PMID: 18720935
Bygum A, Christiansen L, Petersen NE, Hørder M, Thomsen K, Brandrup F
Acta Derm Venereol 2003;83(2):115-20. doi: 10.1080/00015550310007454. PMID: 12735639
Fung WK, Tam SC, Ho KM, Lam P, Lo KK
Hong Kong Med J 2001 Jun;7(2):197-200. PMID: 11514757
Obermayer-Straub P, Manns MP
J Autoimmun 2001 May;16(3):275-85. doi: 10.1006/jaut.2000.0488. PMID: 11334493

Diagnosis

Muñoz-Santos C, Guilabert A, Moreno N, To-Figueras J, Badenas C, Darwich E, Herrero C
Medicine (Baltimore) 2010 Mar;89(2):69-74. doi: 10.1097/MD.0b013e3181d50928. PMID: 20517178
Aarsand AK, Boman H, Sandberg S
Clin Chem 2009 Apr;55(4):795-803. Epub 2009 Feb 20 doi: 10.1373/clinchem.2008.117432. PMID: 19233912
Cassiman D, Vannoote J, Roelandts R, Libbrecht L, Roskams T, Van den Oord J, Fevery J, Garmyn M, Nevens F
Acta Gastroenterol Belg 2008 Apr-Jun;71(2):237-42. PMID: 18720935
Fung WK, Tam SC, Ho KM, Lam P, Lo KK
Hong Kong Med J 2001 Jun;7(2):197-200. PMID: 11514757
Födinger M, Sunder-Plassmann G
Kidney Int Suppl 1999 Mar;69:S22-34. PMID: 10084283

Therapy

Takata K, Shakado S, Sakamoto K, Fukuda H, Yamauchi R, Fukuda S, Kunimoto H, Umeda K, Tanaka T, Yokoyama K, Morihara D, Takeyama Y, Irie M, Sakisaka S
Clin J Gastroenterol 2017 Oct;10(5):459-463. Epub 2017 Sep 7 doi: 10.1007/s12328-017-0772-x. PMID: 28884440
Weber T, Theurich S, Christopeit M, Klapperstueck T, Behre G
Transpl Infect Dis 2010 Oct;12(5):432-6. doi: 10.1111/j.1399-3062.2010.00511.x. PMID: 20487413
Tarwater K, Misra S, Misra M
Hemodial Int 2008 Oct;12 Suppl 2:S38-42. doi: 10.1111/j.1542-4758.2008.00323.x. PMID: 18837769
Fung WK, Tam SC, Ho KM, Lam P, Lo KK
Hong Kong Med J 2001 Jun;7(2):197-200. PMID: 11514757
Rocchi E, Cassanelli M, Ventura E
Br J Dermatol 1987 Sep;117(3):393-6. doi: 10.1111/j.1365-2133.1987.tb04149.x. PMID: 3676087

Prognosis

Tchernitchko D, Robréau AM, Lefebvre T, Lamoril J, Deybach JC, Puy H
Br J Dermatol 2012 Feb;166(2):425-9. Epub 2011 Dec 14 doi: 10.1111/j.1365-2133.2011.10642.x. PMID: 21929532
Aarsand AK, Boman H, Sandberg S
Clin Chem 2009 Apr;55(4):795-803. Epub 2009 Feb 20 doi: 10.1373/clinchem.2008.117432. PMID: 19233912
Cassiman D, Vannoote J, Roelandts R, Libbrecht L, Roskams T, Van den Oord J, Fevery J, Garmyn M, Nevens F
Acta Gastroenterol Belg 2008 Apr-Jun;71(2):237-42. PMID: 18720935
Fung WK, Tam SC, Ho KM, Lam P, Lo KK
Hong Kong Med J 2001 Jun;7(2):197-200. PMID: 11514757

Clinical prediction guides

Tchernitchko D, Robréau AM, Lefebvre T, Lamoril J, Deybach JC, Puy H
Br J Dermatol 2012 Feb;166(2):425-9. Epub 2011 Dec 14 doi: 10.1111/j.1365-2133.2011.10642.x. PMID: 21929532
Aarsand AK, Boman H, Sandberg S
Clin Chem 2009 Apr;55(4):795-803. Epub 2009 Feb 20 doi: 10.1373/clinchem.2008.117432. PMID: 19233912
Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H
Am J Hum Genet 1996 Apr;58(4):712-21. PMID: 8644733Free PMC Article
Pawlotsky JM, Dhumeaux D, Bagot M
Arch Dermatol 1995 Oct;131(10):1185-93. PMID: 7574837
Kushner JP, Edwards CQ, Dadone MM, Skolnick MH
Gastroenterology 1985 May;88(5 Pt 1):1232-8. doi: 10.1016/s0016-5085(85)80084-6. PMID: 3979748

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