Title: Hepatoerythropoietic porphyria: A variant of childhood-onset porphyria cutanea tarda
Abstract: <h2>Abstract</h2> Hepatoerythropoietic porphyria is a rare variant of porphyria cutanea tarda, manifested clinically as photosensitivity starting in early childhood. Biochemically, there are elevated levels of protoporphyrin in erythrocytes and acetate-substituted porphyrins in the plasma, urine, and feces. Uroporphyrinogen decarboxylase activities in these patients are markedly suppressed. Thus far, only nine patients have been reported. We hereby describe the clinical manifestations, histologic changes, porphyrin profiles, and erythrocyte uroporphyrinogen decarboxylase determinations of two additional patients, 9-year-old and 7-year-old siblings, that are consistent with those of nine previously reported patients with hepatoerythropoietic porphyria.
Publication Year: 1984
Publication Date: 1984-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 39
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot