Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report

Clinically manifest porphyria cutanea tarda (PCT) is a rare condition in childhood; however, several cases have been reported in the literature and at our centre. Porphyria Center Sweden is a national knowledge centre, and since 1987, we have diagnosed approximately 1400 new cases of manifest PCT, of which only five have been children. All children have been identified as heterozygous carriers of a pathogenic UROD gene variant and homozygous for hemochromatosis. In our experience, the diagnosis of children with PCT has been delayed, even in the presence of cutaneous symptoms, without known family history. In this case report, and in another child from our centre, the disease has been suspected due to reddish discolored urine in the absence of cutaneous symptoms. In these two cases, the mothers associated the beetroot red urine with known cases of PCT in the family history. The remaining three cases documented in this report were diagnosed based on cutaneous symptoms.