| Summary: | Introduction:. Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH).
We herein report a case of EPP associated with 2 novel mutations in FECH.
Case presentation:. A 15-year-old boy experienced pain and pruritus after sunlight exposure. He had occasional claret-red urine, hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels, and an elevated free erythrocyte protoporphyrin level. He was treated with oral β-carotene and cholestyramine and avoidance of sunlight as much as possible.
Discussion:. Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents. Pathogenicity analysis involving prediction using PolyPhen-2, SIFT, and Mutation Taster revealed that the 2 novel mutations were likely pathogenic. Although the patient’s parents were healthy, they each had one of these 2 mutations. This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic. The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies.
Conclusion:. Although the precise role of these mutations in EPP is not clear, the findings in the present case expand the genotypic spectrum of the disease.
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