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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.
Alcohol dependence
MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child.
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
Obermayer-Straub P, Manns MP
J Autoimmun 2001 May;16(3):275-85. doi: 10.1006/jaut.2000.0488. PMID: 11334493
Siersema PD, Rademakers LH, Cleton MI, ten Kate FJ, de Bruijn WC, Marx JJ, Wilson JH
J Hepatol 1995 Sep;23(3):259-67. PMID: 8550989

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
Schneider-Yin X, Harms J, Minder EI
Swiss Med Wkly 2009 Apr 4;139(13-14):198-206. doi: 10.4414/smw.2009.12496. PMID: 19350426
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
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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