The Porphyrias.

Abstract

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).

• Authors: Wiebke Muschalek, Matthias A Hermasch, Pamela Poblete-Gutiérrez, Jorge Frank
• Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG (J Dtsch Dermatol Ges) Vol. 20 Issue 3 Pg. 316-331 (Mar 2022) ISSN: 1610-0387 [Electronic] Germany
• PMID: 35304965 (Publication Type: Journal Article, Review)
• Copyright: © 2022 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by John Wiley & Sons Ltd on behalf of Deutsche Dermatologische Gesellschaft.

Topics

• Child
• Diagnosis, Differential
• Humans
• Porphyria Cutanea Tarda (diagnosis, therapy)
• Porphyria, Variegate (diagnosis, therapy)
• Porphyrias (classification, diagnosis, therapy)