A RARE CASE OF VARIEGATE PORPHYRIA - A CASE REPORT

Variegate porphyria is a rare autosomal dominant disorder caused by mutation in the protoporhyrinogen oxidase gene (ppox). It is classified as an acute hepatic porphyria. It can present with neurological manifestations, cutaneous photosensitivity or both. In this case a 22 year old female presented with complaints of recurrent attacks of itchy blisters over her face and upper limbs for more than one year. These blisters healed with scarring. Laboratory investigations showed coproporphyrin in the urine. In the stool sample excess protoporphyrin and coproporphyrin were detected.