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[Congenital erythropoietic porphyria: case report and management recommendations]
Claudia Salomone B1, Isabel Ogueta C2, Carlos Reyes V1
1Departamento de Dermatología, Pontificia Universidad Católica de Chile, Santiago, Chile.
Abstract:
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection. A correct diagnosis can significantly improve the quality and life expectancy of these patients. We present the case of a child with congenital erythropoietic porphyria confirmed by genetic analysis.
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