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Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
British Journal of Dermatology, 08/09/2012
Katugampola RP et al. – Congenital erythropoietic porphyria (CEP) is a multi–system disease; cutaneous, ocular, oral and skeletal manifestations also contribute to disease severity and impact on health–related quality of life, in addition to the haematological complications. Rarity of the disease can lead to delayed diagnosis. The lack of consistent genotype–phenotype correlation in CEP suggests a contribution to phenotype from other factors, such as environment, patients’ photo–protective behaviour and other non–uroporphyrinogen III synthase genes. There is currently an unmet need for multi–disciplinary management of patients with CEP.