My name is Valerie and in August 2010 I realized all summer long I had been developing blisters all over my hands and arms. I went to see my family doctor and she thought I was allergic to the sun and sent me to see a dermatologist. The dermatologist looked over my face, arms, hands and body and thought I might have Porphyria Cutanea Tarda (PCT), the most common and also the most readily treated form of Porphyria.
PCT is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver. UROD is the fifth in the series of eight enzymes that are responsible for the synthesis of heme. PCT is somewhat more common in men than it is in women. It usually develops in middle age, hence, the name tarda which is Latin for late.
The dermatologist took biopsies from my left arm and sent the samples out to the Mayo Clinic. When the results came back, I was informed that I had congenital erythropoietic porphyria, or CEP (also referred to as Gunther disease). CEP results from deficiencies in uroporphyrinogen III synthase (UROS). It is inherited as an autosomal recessive disorder.
Today, I have to supply stool and urine samples and viles of blood to be tested every six months. All my doctors tell me I have a mild case of CEP, yet I need to monitor the situation and stay out of the sun and have my curtains closed in my house. If I do venture outside, I am supposed to wear SPF clothing, sunscreen, a big brimmed hat and sunglasses!
It is difficult for an outdoors person like me to have a rare condition like CEP. I hope a cure is found soon.