Familial porphyria cutanea tarda
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Sign InDescription
Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC).
Mode of Inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
VARIANTS
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