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Study · Case report or series · n = 1 · 2026

2 results

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.

Peshin S, Takrori E, Khan KS, Rahimuddin B, Upadhyaya SK, Gami PK, Singal S

Reports (MDPI)16 Feb 2026

PMID41718315 (opens in a new tab)PMCIDPMC12921871 (opens in a new tab)DOI10.3390/reports9010065 (opens in a new tab)PepBankPUB-41718315
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Summary

Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe photosensitivity, blistering, scarring, and hemolytic anemia; however, significant phenotypic variability has increasingly been recognized. Case Presentation: We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course. Genetic testing identified a low-penetrance intronic UROS variant typically associated with erythropoietic protoporphyria, underscoring diagnostic challenges and genotype-phenotype discordance. The patient experienced marked improvement in photosensitivity and burning pain after initiation of afamelanotide, without the need for transfusion therapy or stem cell transplantation. Conclusions: This case highlights the heterogeneity of CEP, the importance of long-term biochemical follow up, and the potential role of afamelanotide in improving quality of life for selected patients with CEP.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study2

2 results from studies that gave the peptide. 2 results from people.

  1. 01HumanCase report or seriesEfficacy outcome

    In a 32-year-old woman with congenital erythropoietic porphyria, photosensitivity improved markedly after afamelanotide was started.

    In plain wordsIn one woman with congenital erythropoietic porphyria, sun sensitivity improved markedly after she started afamelanotide.

    Peptide
    Melanotan I (afamelanotide)
    Outcome
    DecreasePhotosensitivity
    Study

    n = 1

    Outcome group
    Skin and hair · Skin and wound
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient experienced marked improvement in photosensitivity
    1 context sentence
    Summary · context
    We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course.
  2. 02HumanCase report or seriesEfficacy outcome

    In a 32-year-old woman with congenital erythropoietic porphyria, burning pain improved markedly after afamelanotide was started.

    In plain wordsIn one woman with congenital erythropoietic porphyria, burning pain improved markedly after she started afamelanotide.

    Peptide
    Melanotan I (afamelanotide)
    Outcome
    DecreaseBurning pain
    Study

    n = 1

    Outcome group
    Pain · Skin and wound
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient experienced marked improvement in photosensitivity and burning pain
    1 context sentence
    Summary · context
    We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course.

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Version history

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  1. Version 2Current

    13 Oct 2026, 21:44 UTC

    Study results updated

  2. Version 1

    13 Oct 2026, 16:31 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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