Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic acid (ALA), and porphobilinogen (PBG) is observed in patients with VP. Photosensitivity and acute neurovisceral episodes are some common symptoms. Adult-onset cutaneous blistering lesions of sun-exposed skin, notably the hands and face, are the most prevalent manifestation of VP.
What is Variegate Porphyria?
Dr Rohit Bhaskar May 13, 2022