Case history
Case history
A 53-year-old white man with a prior history of hepatitis in childhood, blood transfusions, and past intravenous drug abuse, develops blisters on the backs of the hands. He has noticed that his skin blisters or peels even after minor trauma and that they heal slowly with leaving some residual scarring. He smokes cigarettes, and stopped drinking alcohol a couple of years ago after seeking help for alcohol-use disorder. He does not have any abdominal pain, nausea, or vomiting, but has noticed his urine is sometimes red. Examination is otherwise normal. Urine and plasma total porphyrin levels are found to be elevated.
Other presentations
Blisters due to PCT are almost always on the backs of the hands and are also found on the forearms, face, ears, neck, legs, and feet. Skin hyperpigmentation and hypopigmentation (scarring alopecia) and facial hypertrichosis are common.
Rarely, severe scarring and thickening of the skin resembles scleroderma. PCT rarely presents with skin hyperpigmentation and hypertrichosis of the face in the absence of blisters.
Very rarely, PCT can present in childhood, sometimes as a result of cancer chemotherapy and in the presence of an inherited uroporphyrinogen decarboxylase mutation.[2]
PCT in patients with end-stage renal disease is often more severe than in other people, because circulating levels of porphyrins are likely to be much higher than in patients with PCT and normal renal function.
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