Variegate porphyria

Variegate porphyria is a rare autosomal dominant acute hepatic porphyria caused by heterozygous pathogenic variants in the *PPOX* gene, leading to partial deficiency of the mitochondrial enzyme protoporphyrinogen oxidase This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the systemic accumulation and increased excretion of photoreactive porphyrins and neurotoxic porphyrin precursors Defining cutaneous findings include sun-induced skin fragility, erosions, blistering bulla...

Variegate porphyria is a rare autosomal dominant acute hepatic porphyria caused by heterozygous pathogenic variants in the *PPOX* gene, leading to partial deficiency of the mitochondrial enzyme protoporphyrinogen oxidase This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the systemic accumulation and increased excretion of photoreactive porphyrins and neurotoxic porphyrin precursors

This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the systemic accumulation and increased excretion of photoreactive porphyrins and neurotoxic porphyrin precursors

It characteristically manifests after puberty with cutaneous lesions, acute neurovisceral attacks, or a combination of both Defining cutaneous findings include sun-induced skin fragility, erosions, blistering bullae, and scarring, while acute neurovisceral episodes present with severe abdominal pain, peripheral neuropathy, autonomic dysfunction, and neuropsychiatric disturbances often triggered by specific medications, fasting, or hormonal shifts

It characteristically manifests after puberty with cutaneous lesions, acute neurovisceral attacks, or a combination of both