Variegate Porphyria With Verrucous Carcinoma Diagnosed after Chronic Renal Failure: A case report

Background :
Variegate porphyria (VP) is an autosomal dominant porphyria characterized by both cutaneous and neurovisceral symptoms.A form of acute porphyria, VP is caused by mutations in PPOX, a gene that carries instructions for making an enzyme called protoporphyrinogen oxidase.
Case report :
In this case we discuss a 65-year-old female patient with bullous lesions on hands, lethargy, increased facial hair and darkened facial skin. Here, we report a heterozygous mutation of the PPOX gene in a Turkish female VP patient who has been diagnosed with chronic renal failure secondary to porphyria. A 65-year-old female patient came in with bullous lesions on hands, lethargy, increased facial hair and darkened facial skin.
Conclusion :
Our case is unique in the way that porphyrin precursors were accumulated both in the liver and kidney. Due to delayed diagnosis, chronic kidney failure was observed less than 5 years after the initial high creatinine levels making our patient dialysis-dependent. This case is a clear reminder that porphyria should be kept in mind in the differential diagnosis in order to avoid attacks that will bear long-term complications.

"Uluslararası Porfirinler ve Porfirialar Kongresi (ICPP) 4-7 Eylül 2022 den alınmıştır."