Congenital Erythropoietic Porphyria

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     A 32-year-old man presented with severe pain, swelling, and loss of vision in his left eye after excessive exposure to sunlight. He reported multiple, recurrent, discrete blisters developing on sun-exposed areas that healed with scarring and passing red-colored urine for more than 25 years. Multiple hypopigmented scars of variable size were present on his face, the upper part of his chest, his forearms, and the dorsa of his hands and feet. In addition, hypertrichosis of his face and extremities, resorption of the distal phalanges in his hands, destruction of the ear lobules and cartilaginous part of his nose, and hepatosplenomegaly were present. Ocular examination revealed proptosis, tense eyelid, nonreactive pupil, cataract, and a lack of light perception in his left eye. Excessive concentrations of porphyrins were measured in the urine, erythrocytes, and feces, establishing the diagnosis of erythropoietic porphyria due to a deficiency of uroporphyrinogen III cosynthetase activity. The patient was advised to avoid sunlight, prescribed ascorbic acid and beta carotene, and advised to have all skin infections treated promptly. Ten days later, he returned because of intense pain in his left eye. The eye was enucleated.

    Pankaj Madan, M.D.

    Prem Vardhan, M.D.

    All India Institute of Medical Sciences

    New Delhi 110029, India

    pankajmadaan@rediffmail.com

    http://www.100md.com/html/DirDu/2007/01/01/33/27/66.htm