An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis

Abstract

Cutaneous examination showed varioliform scarring, thickening, hyperpigmentation, and hypertrichosis over the face [Figure 1]a. Crusted erosions were seen over the ears [Figure 1]b and dorsa of hands [Figure 1]c. Hyperkeratotic plaques were present over elbows [Figure 1]d and beaded papules along eyelid margins [Figure 1]e. The patient had a husky voice. Full blood count, urea, electrolytes, liver function tests, and antinuclear antibodies were all normal. {Figure 3} EPP is an autosomal dominant disorder caused by deficiency of enzyme ferrochelatase, which catalyzes the insertion of iron into protoporphyrin to form heme leading to the accumulation of protoporphyrins in erythrocytes, plasma, skin, and liver.