Cutaneous lesions such as vesicles or bullae form on light exposed skin which after time of ulceration and erosions cause scarring. The scarring can cause severe deformities particularly of the face and fingers. Other complications include hypertirchosis, alopecia, conjunctivitis, keratitis, and alterations in pigment. The diagnosis is indicated by dark, port wine , urine, erythrodontia, and hemolytic anemia. Since the defect results from a deficiency of uroporphyrinogen III cosynthase activity increased uroporphyrin is seen in the urine.
Feces demonstrate both increased uroporphyrin and coproporphyrin.
The spleen with an increased pulp and follicular hyperplasia, and the skin will have an increased melanin and fibroblasts. Prophylaxis is used to prevent skin lesions. Normal suntan lotions are ineffective and beta carotene may be given but has not proven to be as effective as in protoporphyria. Complications like infections are treated with antibiotics. In many cases spleenectomy has been used to reduce hemolysis and the stimulation of excessive porphyrin production.