Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.
Dienst Dermatologie Ziekenhuis Oost-Limburg (ZOL) und Praktijk Huidziekten Genk, Genk, Belgium.
J Dtsch Dermatol Ges. 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743.
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).
卟啉病具有临床变异性和遗传异质性，主要是遗传性代谢疾病，由血红素生物合成中特定酶的功能障碍引起。在这里，我们提供了这些复杂代谢紊乱的病因发病机制、临床、鉴别诊断、实验室诊断和治疗的概述，并详细介绍了世界范围内最常见的卟啉病形式（迟发性皮肤卟啉病）、最常见的儿童卟啉病（红细胞生成性原卟啉病）和最常见的神经皮肤卟啉病（斑驳卟啉病）。
