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Images in Clinical Medicine
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Volume 355:1047 September 7, 2006 Number 10
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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 . . . [Full Text of this Article]

 



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