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Hepatoerythropoietic porphyria

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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.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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