Porphyria variegata

Generally the disease manifests after puberty and preferentially affects women. In 60% of cases the only sign of the disease are cutaneous lesions that result from photosensitivity (bullous photodermatitis). These lesions predominate in areas exposed to the sun (hands, face) and manifest as bullae that cause differing degrees of pain and that leave scars that are often hyperpigmented. In 20% of cases, patients present with both cutaneous lesions and neuro-visceral attacks. Finally, 20% of patients present with only neuro-visceral attacks. Attacks can persist for several weeks and manifest as intense abdominal pain, and neurological and psychological symptoms. The abdominal pain is often associated with lumbago irradiating to the thighs, and with nausea, vomiting and constipation. Psychological symptoms are variable: irritability, emotionality, depression, considerable anxiety and, more rarely, auditory and visual hallucinations, disorientation, mental confusion. Neurological manifestations can affect the central nervous system as much as the peripheral nervous system and can lead to severe complications such as motor paralysis. The attacks are most commonly triggered by exogenous factors (porphyrinogenic drugs, alcohol, infections, a hypo-calorific diet, stress), and/or endogenous factors (hormonal, linked to menstrual cycle).