A Case of Congenital Erythropoietic Porphyria without Haemolysis

Abstract

Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther's disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sun-exposed areas, atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth without neurological involvement. The only available prophylactic treatment for CEP is total avoidance of sunlight. A high degree of suspicion is required for the diagnosis. Early diagnosis is very important to prevent subsequent damage.; Learning Points: A rare case of congenital erythropoietic porphyria (CEP) without evidence of haemolysis is described.A high degree of suspicion is required for diagnosing CEP.Early diagnosis prevents further damage.