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Editor,—The porphyrias are a group of rare inherited disorders caused by specific enzymatic defects of the haem biosynthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder of the haem synthesis pathway first described by Günther in 1911.1Clinical symptoms are caused by a homozygous defect of the enzyme uroporphyrinogen III synthase2 which leads to severe anaemia and the accumulation of the biologically inactive type I porphyrins, particularly uroporphyrin I and coproporphyrin I, mainly in bones, erythrocytes, skin, and teeth. Excessive amounts of uroporphyrin and other porphyrin metabolites deposited in skin induce phototoxic, oxygen dependent damage characterised by subepidermal blistering with severe inflammation and subsequent ulceration and scarring of all light exposed skin areas. The phototoxic damage can lead to severe mutilations of hands, fingers, and face, particularly nose, ears, lips, and eyelids. Since 1874 approximately 130 cases of CEP have been reported worldwide. To date there is no known treatment. The only preventive measure is absolute avoidance of sunlight.3
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