Cutaneous porphyrias: a 35 years retrospective study in the Posadas Hospital

Abstract

Porphyrias are a group of diseases that are produced by defects in the production of heme, resulting in the accumulation of toxic precursors. Each type of porphyria presents a specific deficit resulting in a characteristic pattern of accumulation and excretion of porphyrins or their precursors. The accumulation of these intermediate products is responsible for the clinical manifestations. These include photosen-sitivity, skin fragility, blisters, hypertrichosis and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric disorders, anemia, and liver disease.A retrospective study was carried out in which we reviewed clinical his-tories of patients diagnosed with cutaneous porphyria treated at the Dermatology Service of the National Hospital Prof. A. Posadas in the last 35 years. We obtained 56 patients with a diagnosis of cutaneous porphyria, 54 cases of porphyria cutanea tarda and 2 cases (mother and daughter) of erythropoietic porphyria. The most frequent clinical features were: hyperpigmentation, blistering, skin fragility, photosen-sitivity and scarring. The most common serological associations were HIV and HCV; and with respect to other pathologies, the most frequent-ly found was alcoholism.