FaCD Online Syndrome Fact Sheet

Last updated: 25 Jun 2008

Name: Porphyria Variegata

Mode of Inheritance: AD

Genes

PPOX/PPO, mapped to 1q22

Tumor features

hepatocellular cancer (hepatoma)

Non-tumor features

hyperpigmentation of the skin
hypertrichosis
neuropathy
UV hypersensitivity

Comment

This disorder is caused by PROTO-oxidase deficiency. Clinical hallmarks are hyperpigmentation, photosensitivity, hypertrichosis and visceroneurological manifestations including acute abdominal pain, constipation, tachycardia, hypertension, neuropathy, paralysis and psychiatric disturbances. Endogenous and exogenous factors like drugs and steroids may cause exacerbations of the disease. Hepatocellular cancer appears to be rare complication of the disorder[1,2].

References

[1] Germanaud J, Luthier F, Causse X, Kerdraon R, Grossetti D, Gargot D, Nordmann Y. A case of association between hepatocellular carcinoma and porphyria variegata. Scand J Gastroenterol 1994; 29(7):671-672.
[2] Tidman MJ, Higgins EM, Elder GH, MacDonald DM. Variegate porphyria associated with hepatocellular carcinoma. The British journal of dermatology 1989; 121(4):503-5.