Erythropoietic Protoporphyria in Two Sisters

Prentice, R. T. W.; Goldberg, A.

doi:10.1111/j.1365-2133.1967.tb11437.x

Cited by 9 publications

(2 citation statements)

References 221 publications

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“…Of the 54 patients examined, 1 (1-8%) had erythropoietic protoporphyria. This patient has been fully doeumented elsewhere (Prentice and Goldberg, 1967).…”

Section: Incidencementioning

confidence: 96%

“…per 100 ml. erythrocytes in states of iron deficiency (Dagg et al, 1966), it is essential to consider the possibility of iron deficiency in assessing the incidence of erythropoietic protoporphjrria (Prentice and Goldberg, 1967). It has been suggested by Rimington et al (1967) that the clinical history of erythropoietic protoporphyria is distinctive.…”

Section: Clinical Examinationmentioning

confidence: 99%

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Photosensitivity: Familial Incidence, Clinical Featuees and Incidence of Eeythropoietic Peotoporphyeia

1969

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Of 54 patients who had presented with skin sensitivity to sunlight, only 1 was found to have erythropoietic protoporphyria. In the remainder no cause could be found. About half of the patients with non-porphyric photosensitivity complained of burning, swelling and itching of the skin and about half were not protected from, sunlight by window glass. All of these clinical features are characteristic of erythropoietic protoporphyria and this underlines the fact that a definite diagnosis of erythropoietic protoporphyria depends primarily on the measurement of porphyrins in the blood.Among the 54 patients were 47 who had at least 3 episodes of photosensitivity. These 47 patients could be subdivided into 2 groups (A) in which the onset was late (mean age 45 years) and the duration of photosensitivity was less than 35% of the Iifespan, and (B) in which the onset was early (mean age 12 years) and in which the duration of symptoms was greater than 35% of the Iifespan. Only 3 of the 30 patients in Group (A) had a definite family history of photosensitivity, while 8 of the 17 patients in Group (B) had such a family history (P < 0 05).This suggests the existence of at least 2 distinct populations within nonporphyric photosensitive patients, namely those of early onset with a genetic aetiology like erythropoietic protoporphyria, and those in whom the disease was acquired in late adult life.

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“…Of the 54 patients examined, 1 (1-8%) had erythropoietic protoporphyria. This patient has been fully doeumented elsewhere (Prentice and Goldberg, 1967).…”

Section: Incidencementioning

confidence: 96%

Section: Clinical Examinationmentioning

confidence: 99%

Photosensitivity: Familial Incidence, Clinical Featuees and Incidence of Eeythropoietic Peotoporphyeia

1969

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Erythropoietic protoporphyria: Porphyrin content of a gall-stones

Goerz¹,

Krieg²,

Bolsen³

et al. 1976

Arch. Derm. Res.

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In the case of a 48 year old woman with characteristic signs of erythropoetic protoporphyria, a solitary gall-stone which had persisted over a period of 10 years was removed. Porphyrin-concentration of this gall-stone was found to be 22.6 mcg/g, which is almost twenty times the concentration of other cholestrol-stones. Besides protoporphyrin, porphyrins with a higher degree of carboxylation were discovered in four different samples by thin layer chromatography. It is postulated that the increased bile-concentration of protoporphyrin in the liver causes the cristallisation of cholestrol and the formation and growth of gall-stones. The biochemical finding of porphyrins with a higher degree of carboxylation indicates that the porphyrins of the gall-stone may not only come from hemolysed erythrocytes but possibly also from metabolites of disturbed hepatic porphyrin biosynthesis.

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