hepatoerythropoietic porphyria
Last edited 11/2021 and last reviewed 11/2021
Hepatoerythropoietic porphyria is an extremely rare condition with markedly decreased erythrocytic uroporphyrinogen decarboxylase. It occurs in early infancy, usually before the age of two years, and is inherited autosomal recessively.
It is characterised by a dark urine, marked cutaneous photosensitivity including blistering, burning and pruritus. Photosensitivity decreases with age and is followed by hyperpigmentation, hypertrichosis and scleroderma like scarring. Ocular features include ectropion. There may be splenomegaly and haemolytic anaemia.
Avoidance of sunlight is the only treatment.