- A family of uncommon disorders associated w/abnormalities in heme biosynthesis in the liver
- Dysfunctional or lower than normal levels of enzyme → accumulation of precursor proteins
- Different symptoms/presentations based on which enzymes deficient → build up of different precursor proteins
- Less likely to have family history than AIP (i.e. PCT is typically an acquired d/o)
- PCT is the most common of the cutaneous porphyrias
- Hepatitis C in 2/3 of those w/PCT
- Male predominance, age >40
- Smoking, chronic alcohol use/cirrhosis, HIV, iron overload
- Slow development of sometimes painful skin findings in sun exposed areas (e.g. hands, back of neck)
- No neurological symptoms
- Skin is easily damaged, peels, blisters w/minimal trauma
- Excessive hair growth
- Urine sometimes brown to reddish-brown
- Excess hair growth on face/sun exposed areas
- Blisters, pigmentation, fragile/slow healing skin in particular on back of hands
- Elevated levels uroporphyrin