The porphyrias are a group of rare metabolic diseases in which porphyrins accumulate and lead to neurological symptoms and/or skin problems.
Acute porphyrias primarily involve the nervous system and are often associated with severe pain as well as other non-specific symptoms (abdominal pain, neuropathy, vomiting, metnal disturbances) that make diagnosis problematic. Cutaneous porphyrias usually involve the skin. Exposure to sun can lead to intense pain and/or blistering.
For more information, visit www.porphyriafoundation.com or rarediseases.org