porphyria variegata

variegate porphyria (VP) an autosomal dominant hepatic porphyria due to mutation in the PPOX gene (locus: 1q22), which encodes protoporphyrinogen oxidase, resulting in partial deficiency of enzyme activity. It is characterized by various combinations of chronic cutaneous photosensitivity with lesions and extreme skin fragility, attacks of abdominal pain, neuropathy, and gastrointestinal dysfunction. Fecal protoporphyrin and coproporphyrin are elevated continually and urinary coproporphyrin, δ-aminolevulinic acid, and porphobilinogen are elevated during acute attacks. Called also mixed p., South African genetic p., and protocoproporphyria.