Cutaneous disease is characterized by photosensitivity, which is caused by greater absorption of UV radiation secondary to the increased porphyrins. Activated porphyrins become unstable and create reactive oxygen species when they return to ground state.2 The unstable oxygen reacts to create tissue damage, including blistering and skin fragility, which heals with scarring, milia, and dyspigmentation.3

Other features of PCT are hypertrichosis, sclerodermalike plaques, and discolored urine.


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PCT is frequently associated with liver disease, alcoholism, hepatitis C virus, estrogen treatment, diabetes mellitus, lupus erythematosus, and HIV.4 Removal of any of these conditions may lead to sufficient improvement so that further treatment for PCT is not required.

First-line treatment is phlebotomy of about 450 mL of blood, removed at intervals of one to two weeks.5 The rationale for this treatment is that the defective enzyme is inhibited by iron and removal of hepatic iron then precipitates recovery of enzyme activity. With treatment, liver function may return to normal, indicating remission of the disease. Several months of therapy will improve the blistering and skin fragility and may eventually reverse the cutaneous sclerosis and hypertrichosis.

Other treatments include low-dose oral chloroquine or hydroxychloroquine, which bind porphyrin molecules; however these agents may induce hepatic toxicity. Chelation therapy is an alternative for patients who cannot tolerate phlebotomy.

After treatment for an acute episode of PCT, plasma porphyrins and ferritin should be periodically measured. Early detection of a recurrence can then be treated promptly.

4. Conclusion

Ms. H noted marked improvement in skin disease after several sessions of phlebotomy, with only an occasional new blister forming. Her hemoglobin level fell from 17 g/dL pre-phlebotomy to 13.1g/dL after two treatments. She reports that her urine color has become lighter and closer to her baseline pale-yellow color.

With proper treatment and avoidance of triggers, PCT has a good prognosis for complete remission without relapse. The patient’s treatment plan called for several more sessions of bimonthly phlebotomies. The goal was for her ferritin and hemoglobin levels to reach the lower range of normal while avoiding phlebotomy-induced anemia. After seven phlebotomy sessions over a three-month period, Ms. H’s liver enzymes, iron studies, and skin all returned to normal.

Ms. Stern is a family nurse practitioner at Advanced Dermatology & Skin Surgery, P.C., in Lakewood, N.J.

References

1. Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973;107:689-698.

2. James WD, Berger TG, Elston DM. Errors in metabolism. In: Andrews’ Diseases of the Skin: Clinical Dermatology. 10th ed. Philadelphia, Pa.: Saunders-Elsevier; 2006:522-525.

3. Grossman ME, Poh-Fitzpatrick MB. Porphyria cutanea tarda. Diagnosis and management. Med Clin North Am. 1980;64:807-827.

4. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyr­ia. BMJ. 2000;320:1647-1651. 

5. Rocchi E, Gibertini P, Cassanelli M, et al. Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion. Br J Dermatol. 1986;114:621-629.

All electronic documents accessed March 15, 2011.