Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria?
Deforming cutaneous porphyria developed in a 12-year-old boy; the severity of his skin disease resolved spontaneously as he grew older. The clinical and biochemical aspects of this case clearly fit the descriptions in the medical literature of both hepatoerythropoietic porphyria (HEP) and infantile symptomatic porphyria (SP). Further porphyrin analyses indicated that our patient suffered from infantile SP. The lack of unquestionably unique features diagnostic for HEP raises strong doubts that it exists as a separate disease entity substantially different from infantile SP.
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011166:Porphyrins / Q000378:metabolism; D012871:Skin Diseases / Q000175:diagnosis*
D011166:Porphyrins