Literature DB >> 1231625

[Hepato-erythrocytic porphyria. A new type of porphyria].

J Piñol Aguadé, C Herrero, J Almeida, A Castells Mas, J Ferrando, J De Asprer, A Palou, A Giménez.   

Abstract

A case of porphyria with symptomatology beginning in early infancy with peculiar biochemical features is described. There were crops of blisters, an extraordinary hypertrichosis and scarring of the exposed skin. The porphyrin examination showed an abnormal excretion pattern of urinary porphyrins with large amounts of 5-COOH carboxyle porphyrins and the protoporphyrin level of the red cells was raised. There was fluorescence of the erythrocytes and erythroblasts. The porphyrin excretion pattern of the stools was similar to those of the PCT. This case is closely similar to another published by the authors in 1969 and to 2 published by Schneider and Simon. The authors consider that could represent a new type of porphyria.

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Year:  1975        PMID: 1231625

Source DB:  PubMed          Journal:  Ann Dermatol Syphiligr (Paris)        ISSN: 0003-3979


  4 in total

1.  Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Authors:  Julie L Cantatore-Francis; Jessica Cohen-Pfeffer; Manisha Balwani; Philip Kahn; Herbert M Lazarus; Robert J Desnick; Julie V Schaffer
Journal:  Arch Dermatol       Date:  2010-05

2.  Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

Authors:  J To-Figueras; J D Phillips; J M Gonzalez-López; C Badenas; I Madrigal; E M González-Romarís; C Ramos; J M Aguirre; C Herrero
Journal:  Br J Dermatol       Date:  2011-08-18       Impact factor: 9.302

3.  Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.

Authors:  H de Verneuil; J Hansen; C Picat; B Grandchamp; J Kushner; A Roberts; G Elder; Y Nordmann
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

4.  Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

Authors:  H Fujita; S Sassa; A C Toback; A Kappas
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

  4 in total

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