Article
A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Nov 2023
Li Qingqing, Chen Xiaoyan, Wang Hong, Tuo Biguang, Zhou Zunlan, Yang Lina
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the FECH gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of...
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