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  • Title: [Often unrecognized: erythropoietic protoporphyria].
    Author: Minder EI, Schneider-Yin X.
    Journal: Schweiz Med Wochenschr; 1993 Feb 13; 123(6):229-33. PubMed ID: 8434252.
    Abstract:
    Erythropoietic protoporphyria is an autosomal dominant hereditary disorder with irregular penetrance. Recently, the first molecular DNA defects have been published. Various courses the disease may take are illustrated by three cases. The main symptom is photosensitivity, usually beginning in early childhood. Development of gallstones at an early age is one possible complication. Terminal liver failure, a rare but fatal complication, is due to intrahepatic protoporphyrin deposition and is treatable by liver transplantation only. Possible treatment schemes for photosensitivity and for liver involvement are discussed.
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