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Porphyria cutanea tarda

Porphyria cutanea tara

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Zusammenfassung

Mit einer Prävalenz von 40 Erkrankungen pro 1 Mio. Menschen ist die Porphyria cutanea tarda die häufigste Porphyrie. Sie beruht auf einer Hemmung der Uroporphyrinogen-Decarboxylase (UROD), die erblich durch heterozygot oder homozygot auftretende Mutationen auftreten, aber auch durch exogene Faktoren bedingt sein kann. Risikofaktoren umfassen Alkohol, Östrogen, Eisenstoffwechselstörungen oder Intoxikationen z. B. mit polyhalogenierten Aromaten. Symptome sind Blasen, leichte Verwundbarkeit der Haut, Milien, Hypertrichose und sklerodermieforme Hautsymptome. Neben Lichtschutz und Meidung der Risikofaktoren stehen Aderlass und Chloroquin im Vordergrund der Therapie.

Abstract

Porphyria cutanea tara (PCT) has a prevelance of about 40 new diagnoses per 1 million people per year and is the most frequently occurring type of porphyria worldwide. Inhibition of the uroporphyrinogen decarboxylase (UROD) is the main cause of the disease, which can be the result of a heterozygous or homozygous mutation of the UROD gene; however, xenobiotics or other diseases may play an important role for the precipitation of the disease. Risk factors include alcohol, estrogen, iron overload, and hemochromatosis, hepatitis C or poisoning, e.g., with polyhalogenated aromatic compounds such as hexachlorobenzene. Signs and symptoms are blisters, skin fragility, erosions hyperpigmentation, sclerodermoid plaques. Therapy includes sun protection, prevention of risk factors, phlebotomy, and chloroquine.

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Authors and Affiliations

  1. Hautklinik – Klinik für Dermatologie & Allergologie, RWTH Aachen University, Aachen, Deutschland

    H. F. Merk

  2. Dohlenfeld 8, 45479, Mülheim an der Ruhr, Deutschland

    H. F. Merk

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  1. H. F. Merk
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Merk, H.F. Porphyria cutanea tarda. Hautarzt 67, 207–210 (2016). https://doi.org/10.1007/s00105-015-3744-4

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