Childhood-onset familial porphyria cutanea tarda: effects of therapeutic phlebotomy.
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.
Poh-Fitzpatrick
M B
MB
Department of Dermatology, New York Medical College, Valhalla 10595.
Honig
P J
PJ
Kim
H C
HC
Sassa
S
S
D001815:Bloodletting; D002675:Child, Preschool; D005148:Facial Dermatoses / Q000235:genetics / Q000628:therapy; D005260:Female; D006229:Hand Dermatoses / Q000235:genetics / Q000628:therapy; D006801:Humans; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*