Two siblings with congenital erythropoietic porphyria in one family: case report and literature review

Yue-Qian YANG; Yang HAN; Ci-Liu ZHANG; Min XIE

doi:10.7499/j.issn.1008-8830.2503048

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (10) : 1271-1275. DOI: 10.7499/j.issn.1008-8830.2503048

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Two siblings with congenital erythropoietic porphyria in one family: case report and literature review

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Abstract

Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.

Key words

Congenital erythropoietic porphyria / Skin / Photosensitivity / Child

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Yue-Qian YANG , Yang HAN , Ci-Liu ZHANG , et al. Two siblings with congenital erythropoietic porphyria in one family: case report and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(10): 1271-1275 https://doi.org/10.7499/j.issn.1008-8830.2503048

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