ABSTRACT
A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.
Subject(s)
Chloroquine/therapeutic use , Hemochromatosis/diagnosis , Hemochromatosis/drug therapy , Porphyria Cutanea Tarda/diagnosis , Porphyria Cutanea Tarda/drug therapy , Scleroderma, Diffuse/diagnosis , Scleroderma, Diffuse/drug therapy , Female , Hemochromatosis/genetics , Hemochromatosis Protein , Histocompatibility Antigens Class I/genetics , Humans , Membrane Proteins/genetics , Middle Aged , Mutation/genetics , Porphyria Cutanea Tarda/genetics , Scleroderma, Diffuse/geneticsABSTRACT
A 56-year-old man presented with a 12-year history of erectile dysfunction, which caused him extreme distress with episodes of depression. Attempts with sildenafil did not improve his erections. We tried intracavernous injection of alprostadil which enabled the patient to achieve a moderate erection. Thus, we instructed the patient for self-injection, which led to sufficient erections over the following months. We then restarted with tadalafil as a monotherapy which then was successful.
