Verrüköz Karsinom ile Görülen Geç Teşhis Edilen Variegate Porfiri

Abstract

Variegate porphyria (VP) is an autosomal dominant porphyria characterized by both cutaneous and neurovisceral symptoms. In this case we discuss a 65-year-old female patient with bullous lesions on hands, lethargy, increased facial hair and darkened facial skin. A form of acute porphyria, VP is caused by mutations in PPOX, a gene that carries instructions for making an enzyme called protoporphyrinogen oxidase. 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. Porphyria is one of those disease needed to be kept in mind as differential diagnosis. Late diagnosis of this disease would lead to different chronic organ failures as a result of heme accumulation in different tissues and organs. This case, it is a clear reminder for the health care workers to remember the ''Primum non no nonocere'' rule and also remembering porphyria as a differential diagnosis in longterm attacks and symptoms.