FaCD Online Syndrome Fact Sheet

Last updated: 25 Jun 2008

Name: Porphyria Cutanea Tarda, Type II

Synonym: PCT-II

Mode of Inheritance: AD

Genes

UROD, mapped to 1p34

Tumor features

hepatocellular cancer (hepatoma)

Tumor features (possible)

leukemia, chronic lymphocytic (CLL)
lung/bronchial cancer
non-Hodgkin lymphoma

Non-tumor features

hyperpigmentation of the skin
hypertrichosis
liver cirrhosis
UV hypersensitivity

Comment

The familial form is referred to as type II ( the sporadic one as type I). This disorder is caused by uroporphyrinogen decarboxylase deficiency. Clinical hallmarks are photosensitivity, hyperpigmentation and hypertrichosis. Several exogenous factors can contribute to the development of the disorder: including alcohol, excess iron, estrogens and chemicals like hexachlorobenzene.

Most data on PCT and cancer is from sporadic cases. Patients with PCT have an increased risk, 100-200 fold?, to develop hepatocellular cancer. Salata et al.[1] demonstrated that cirrhosis and age over 51 were significant risk factors for hepatocellular cancer development in PCT. They suggested that hepatocarcinogenesis and development of cirrhosis in PCT may be coexisting phenomena, rather than hepatocellular cancer being a late consequence of cirrhosis. It has also been suggested that liver cancer in PCT patients could be attributable, at least in part, to concomitant hepatitis C viral infection[8].

Remenyik et al.[2] reported a case of CLL in a patient with familial PCT. A patient with porphyria cutanea tarda and a histiocytic lymphoma has been reported[3]. In another patient the disease was present in addition to polyneuropathy, myopathy and bronchial cancer[4]. In general, the possibility that PCT might have developed as a paraneoplastic result of an underlying tumor should be considered.[5-7].

Links

Iron Disorders Institute 18 1 08

References

[1] Salata H, Cortes JM, De Salamanca RE, Oliva H, Castro A, Kusak E, Carreno V, Guio CH. Pophyria cutanea tarda and hepatocellular carcinoma: frequency of occurrence and related factors. J Hepatol 1985; 1:477-487.
[2] Remenyik E, Ujj G, Kiss A, Koszo F, Horkay I. Porphyria cutanea tarda and chronic lymphoid leukemia. Photodermatol Photoimmunol 1996; 12(4):180-182.
[3] Lai CL, Wu PC, Lin HJ, Wong KL. Case report of symptomatic porphyria cutanea tarda associated with histiocytic lymphoma. Cancer 1984; 53(3):573-576.
[4] Hartmann A, Krause KH, Schmitt HP, Born JA. [Porphyria cutanea tarda, polyneuropathy and myopathy in small cell bronchial cancer]. Nervenarzt 1982; 53(8):475-480.
[5] Kordac V. Frequency of occurrence of hepatocellular carcinoma in patients with porphyria eutanea tarda in long-term followup. Neoplasma 1972; 19(2):135-139.
[6] Hardell L. Aspects of primary liver cancer and its relation to porphyria cutanea tarda and porphyria acuta intermittens. IARC Sci Publ 1986;(77):591-592.
[7] Solis JA, Betancor P, Campos R, Enriquez de Salamanca RE, Rojo P, Marin I, Schuller A. Association of porphyria cutanea tarda and primary liver cancer: report of ten cases. J Dermatol 1982; 9(2):131-137.
[8] Gisbert JP, García-Buey L, Alonso A, Rubio S, Hernández A, Pajares JM, García-Díez A, Moreno-Otero R. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. European journal of gastroenterology & hepatology 2004; 16(7):689-92.