Porphyria in childhood.
Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of the cutaneous porphyrias, erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and the hereditary form of porphyria cutanea tarda (PCT) can present in infancy or childhood. This article focuses on the porphyrias that present in infants and children along with a brief discussion of pathogenesis, cutaneous histopathology, and genetics of these metabolic disorders.
Jensen
J D
JD
Department of Dermatology, University of North Carolina at Chapel Hill 27514, USA.
Resnick
S D
SD
D000328:Adult; D002648:Child; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D007223:Infant; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000628:therapy; D017121:Porphyria, Hepatoerythropoietic / Q000175:diagnosis / Q000628:therapy; D011164:Porphyrias / Q000209:etiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D006418:Heme