Late presentation of erythropoietic protoporphyria

case report and genetic analysis of family members

L. Berroeta, I. Man, D. R. Goudie, S. D. Whatley, G. H. Elder, S. H. Ibbotson

    Research output: Contribution to journalArticle

    19 Citations (Scopus)

    Abstract

    Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requires inheritance of a severe FECH mutation trans to a low-expression FECH variant (FECH IVS3-48C), which is present in 13% of the U.K. population. Reduced FECH activity leads to accumulation of protoporphyrin in various tissues. An excess amount of free protoporphyrin in the skin causes photosensitivity. EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure. Onset of symptoms in adults is rare and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. Here we describe a patient with EPP, in whom the presenting clinical symptom, night-time itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype.
    Original languageEnglish
    Pages (from-to)1030-1031
    Number of pages2
    JournalBritish Journal of Dermatology
    Volume157
    Issue number5
    DOIs
    Publication statusPublished - Nov 2007

    Fingerprint

    Ferrochelatase
    Erythropoietic Protoporphyria
    Heme
    Mutation
    Hematologic Neoplasms
    Pruritus
    Siblings
    Iron
    Genotype
    Light
    Skin
    Enzymes

    Keywords

    • Genotype
    • Ferrochelatase
    • Photosensitivity Disorders
    • Age of Onset
    • Protoporphyria, Erythropoietic
    • Humans
    • Middle Aged
    • Female

    Cite this

    Berroeta, L. ; Man, I. ; Goudie, D. R. ; Whatley, S. D. ; Elder, G. H. ; Ibbotson, S. H. / Late presentation of erythropoietic protoporphyria : case report and genetic analysis of family members. In: British Journal of Dermatology. 2007 ; Vol. 157, No. 5. pp. 1030-1031.
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    Late presentation of erythropoietic protoporphyria : case report and genetic analysis of family members. / Berroeta, L.; Man, I.; Goudie, D. R.; Whatley, S. D.; Elder, G. H.; Ibbotson, S. H.

    In: British Journal of Dermatology, Vol. 157, No. 5, 11.2007, p. 1030-1031.

    Research output: Contribution to journalArticle

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    AU - Berroeta, L.

    AU - Man, I.

    AU - Goudie, D. R.

    AU - Whatley, S. D.

    AU - Elder, G. H.

    AU - Ibbotson, S. H.

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    N2 - Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requires inheritance of a severe FECH mutation trans to a low-expression FECH variant (FECH IVS3-48C), which is present in 13% of the U.K. population. Reduced FECH activity leads to accumulation of protoporphyrin in various tissues. An excess amount of free protoporphyrin in the skin causes photosensitivity. EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure. Onset of symptoms in adults is rare and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. Here we describe a patient with EPP, in whom the presenting clinical symptom, night-time itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype.

    AB - Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requires inheritance of a severe FECH mutation trans to a low-expression FECH variant (FECH IVS3-48C), which is present in 13% of the U.K. population. Reduced FECH activity leads to accumulation of protoporphyrin in various tissues. An excess amount of free protoporphyrin in the skin causes photosensitivity. EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure. Onset of symptoms in adults is rare and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. Here we describe a patient with EPP, in whom the presenting clinical symptom, night-time itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype.

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    KW - Middle Aged

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