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The Porphyrias
Author(s) -
Muschalek Wiebke,
Hermasch Matthias A.,
Poblete Gutiérrez Pamela,
Frank Jorge
Publication year - 2022
Publication title -
jddg: journal der deutschen dermatologischen gesellschaft
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 60
eISSN - 1610-0387
pISSN - 1610-0379
DOI - 10.1111/ddg.14743
Subject(s) - porphyria , erythropoietic protoporphyria , porphyria cutanea tarda , medicine , heme , dermatology , enzyme , protoporphyrin , biology , biochemistry , porphyrin
Summary The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).