Consult pathologist regarding appropriate specimens.
If patient has intermittent symptoms, specimens for porphyrin analysis should be collected during a symptomatic period. Skin biopsy of lesions may suggest porphyria and can exclude other causes of bullous and scarring lesions. Specific porphyrin disorders may have the following manifestations:
(a) acute neurological porphyrias - abdominal pain, constipation, hypertension, neuropathy, psychiatric symptoms;
(s) photosensitive skin fragility with scarring;
(u) solar urticaria - pruritus, erythema and swelling with ultimate scarring.
Coproporphyrinuria may occur in cholestasis, and poisoning with heavy metals (eg, lead, mercury) or certain chemicals (eg, hexachlorbenzene).