Clinically, patients affected with<unk> P present similarly to those with other acute porphyrias, such as acute intermittent porphyria (AIP) and variegate porphyria (VP). Patients with<unk> P and VP can present with symptoms shared between the acute and cutaneous porphyrias. This includes the acute attacks of abdominal pain, nausea, vomiting, diarrhea, tachycardia, hypertension and seizures, as well as the cutaneous findings seen in porphyria cutanea tarda (PCT), namely increased skin fragility, bullous lesions after exposure to sunlight and increased scarring. Individuals with<unk> P may be asymptomatic in the absence of triggering factors. Common triggers include certain drugs, alcohol, hormonal changes, and dietary changes. Sunlight and other ultraviolet light can trigger the skin manifestations. Homozygous individuals for CPOX mutations can present with these findings at an earlier age than heterozygotes.
Hereditary coproporphyria
Hartnup disease
Acromesomelic dysplasia
Van Gogh syndrome
Schnitzler syndrome
Imperforate anus
Wildervanck syndrome
Ackerman syndrome