This site is intended for healthcare professionals
Login | Register (NOW FREE)

Medical search

hepatoerythropoietic porphyria

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

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.

 
The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions LtdĀ®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions LtdĀ® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.