Childhood-onset familial porphyria cutanea tarda: effects of therapeutic phlebotomy.

Abstract

Cutaneous fragility at age 2 years with blistering, scarring, milia, and hypertrichosis at age 4 years were noted in an otherwise healthy girl who had no family history of porphyria. Results of porphyrin analyses of urine, serum, and red blood cells revealed a pattern consistent with porphyria cutanea tarda. Red blood cell uroporphyrinogen decarboxylase activity was diminished to approximately 50% of normal in the child and in her mother and maternal grandmother, who were without symptoms; activity was normal in her sister, father, and maternal grandfather. Therapeutic phlebotomies were followed by a biochemical and clinical remission.