Variants
Sign InSign Up

Familial porphyria cutanea tarda

Your Results

Sign In

Description

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).

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

35

SEE THE VARIANTS →

Genes

External Links

  • OMIM
  • Orphanet

    443062

  • HPO
  • Medgen

    C0268323

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.