Congenital Porphyria, Hydroa Aestivale and Hypertrichosis in a South African Bantu

Findlay, G. H.; Barnes, H. D.

doi:10.1016/s0140-6736(50)91780-6

Cited by 20 publications

(2 citation statements)

References 6 publications

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“…porphyria by Findlay and Barnes (1950). They described hyperpigmentation, hypertrichosis, numerous bullae on the exposed parts, and many scars with deformity of the hands.…”

Section: 5mentioning

confidence: 99%

The Anaemia of Erythropoietic Porphyria with the First Description of the Disease in an Elderly Patient

Kramer¹,

Viljoen²,

Meyer³

et al. 1965

Br J Haematol

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less than 60 cases of erythropoietic porphyria have been described since the original report by Shultz in 1874. It is a congenital disease and is generally thought to be transmitted in a non sex‐linked recessive mode (Goldberg and Rimington, 1962, p. 49; Heilmeyer, Clotten, Kerp, Merker, Parra and Wetzel, 1964). All cases in whom a definitive statement was made regarding age of onset presented in childhood and no patient has survived to middle age (Goldberg and Rimington, 1962, p. 55). The first of the two cases described here is unusual in that the disease only manifested itself after the age of 50 Most patients with erythropoietic porphyria have a haemolytic anaemia (Goldberg and Rimington, 1962, p. 54). There is frequently a reticulocytosis and the serum bilirubin may be slightly raised. Urobilinogen and stercobilinogen excretion are increased. Erythrocyte survival has been studied in a few cases with equivocal results (London, West, Shemin and Rittenburg, 1950; Gray, Muir and Neuberger, 1950; Rosenthal, Lipton and Asrow, 1955; Canivet and Pernard‐Considére, 1958; Heilmeyer et al., 1964). In an attempt to elucidate the mechanism underlying the anaemia associated with this disease two cases of erythropoietic porphyria were studied using a combined radioactive iron and chromium technique to make detailed simultaneous measurements of red‐cell production and destruction.

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“…porphyria by Findlay and Barnes (1950). They described hyperpigmentation, hypertrichosis, numerous bullae on the exposed parts, and many scars with deformity of the hands.…”

Section: 5mentioning

confidence: 99%

The Anaemia of Erythropoietic Porphyria with the First Description of the Disease in an Elderly Patient

Kramer¹,

Viljoen²,

Meyer³

et al. 1965

Br J Haematol

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“…Two patients with e r y t h r o p o i e t d p h y r i a were studied on 2 and 3 separate occasions respectively during a 2-year period. The clinical and biological findings in the patients with erythropoietic porphyria have been previously reported (Findlay & Barnes 1950, Leary 1967.…”

Section: Studies In Manmentioning

confidence: 89%

Intracellular Porphyrin Concentration and Erythrocyte Life‐Span

Kramer

Sive

Becker

et al. 1972

Scandinavian Journal of Haematology

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Red cells from 6 convalescent hospital patients without evidence of porphyria and from 2 patients with erythropoietic porphyria (5 studies) were incubated with delta amino laevulinic acid (ALA) thereby increasing the intracellular porphyrin concentration. These cells were then labelled with 3H DFP or DF32P and re‐injected, and their life‐span compared to a control population of cells labelled with the alternate isotope. Increasing the cellular porphyrin concentration did not alter red cell life‐span. Similarly, increasing the level of porphyrins in rabbit whole blood did not diminish their life‐span, when measured with radiochromium. These data indicate that increased intracellular porphyrin concentration does not prejudice red cell life‐span, and that the haemolytic anaemia in patients with erythropoietic porphyria is not due to the increased intracellular porphyrin concentration.

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Observations on Porphyria Cutanea Tarda

Brunsting¹

1954

Arch Dermatol

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Congenital Porphyria, Hydroa Aestivale and Hypertrichosis in a South African Bantu

Cited by 20 publications

References 6 publications

The Anaemia of Erythropoietic Porphyria with the First Description of the Disease in an Elderly Patient

The Anaemia of Erythropoietic Porphyria with the First Description of the Disease in an Elderly Patient

Intracellular Porphyrin Concentration and Erythrocyte Life‐Span

Observations on Porphyria Cutanea Tarda

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