GTR Home > Conditions/Phenotypes > Familial porphyria cutanea tarda

Summary

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980). De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (176090), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al., 2007). [from OMIM]

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Associated genes

Clinical features

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  • Alopecia
  • Fragile skin
  • Thin skin
  • Hyperpigmentation in sun-exposed areas
  • Onycholysis
  • Hepatocellular carcinoma
  • Cutaneous photosensitivity
  • Cirrhosis
  • Hemolytic anemia
  • Facial hypertrichosis
  • Scleroderma
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