Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review

Abstract

Congenital erythropoietic porphyria (CEP) or Günther's disease is a rare autosomal recessive disease resulting from deficient uroporphyrinogen III synthase (UROS) activity, mostly due to homozygous mutations in the UROS gene, and less frequently in GATA1.1 CEP commonly presents at birth with cutaneous photosensitivity, blistering, hypo- and hyperpigmentation, severe scarring and deformities.