title: [Neurocutaneous porphyrias].
abstract: Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria.
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland. jorge.frank@med.uni-duesseldorf.de.
authors.forename: J
authors.initials: J
authors.lastname: Frank
mesh_terms: D046349:Coproporphyria, Hereditary / Q000175:diagnosis* / Q000628:therapy*; D003937:Diagnosis, Differential; D019317:Evidence-Based Medicine; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000628:therapy*; D046350:Porphyria, Variegate / Q000175:diagnosis* / Q000628:therapy*; D016896:Treatment Outcome
keywords: Coproporphyrinogen oxidase; Hereditary coproporphyria; Metabolic disease; Protoporphyrinogen oxidase; Variegate porphyria