Abstract
We present a 27-year-old female Caucasian patient, who initially presented with extensive fragility and blistering of mainly the dorsal side of both hands. Histology and urine porphyrin analysis confirmed the diagnosis of porphyria cutanea tarda. Internal screening for underlying disease revealed C282Y mutation-associated primary hemochromatosis, a hereditary iron-overload syndrome that may cause toxicity of a variety of organs. Hemochromatosis and porphyria cutanea tarda are pathogenetically linked as iron interferes with heme synthesis pathway. Patient was successfully treated with phlebotomy and low-dose hydroxychloroquine.
Highlights
Primary hemochromatosis is a hereditary iron-overload syndrome with enhanced intestinal absorption of iron and potentially noxious iron in the peripheral tissue
Hemochromatosis and porphyria cutanea tarda are pathogenetically linked as iron interferes with heme synthesis pathway
Two separate gene mutations in the hemochromatosis gene (C282Y and H63D) have recently been identified that are responsible for the disease [1]
Summary
Primary hemochromatosis is a hereditary iron-overload syndrome with enhanced intestinal absorption of iron and potentially noxious iron in the peripheral tissue. We present a patient with sunlight-aggravated fragile skin on the hands and wrists with bullae formation, diagnosed as porphyria cutanea tarda (PCT), which was the first sign of underlying hemochromatosis. Blood analysis revealed: CRP 34 (n < 10), ASAT 91 (n < 40), ALAT 141 (n < 45), Fe 41 (10-25) and ferritin 783 (6-80). Differential diagnosis at this time included PCT, epidermolysis bullosa acquisita, bullous pemphigoid, perniones, drug eruption. The porphyria symptoms were still in remission She rapidly developed three ulcers on the lateral side of the left lower leg in 5 days varying from 6 mm to 2 cm in diameter (Figure 1).
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