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Late onset erythropoietic porphyria
Y Horiguchi1, T Horio, M Yamamoto
1Department of Dermatology, Faculty of Medicine, Kyoto University, Japan.
The British Journal of Dermatology
|August 1, 1989
Summary
This study identifies late-onset erythropoietic porphyria in siblings presenting with skin lesions and urine abnormalities. Biochemical analysis confirmed increased uro- and coproporphyrin, supporting this rare diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Porphyrias are a group of genetic disorders affecting heme biosynthesis.
- Erythropoietic porphyria (EP) is a rare subtype, typically presenting in childhood.
- Late-onset forms of EP are exceptionally uncommon.
Observation:
- Two siblings from a consanguineous family presented with photosensitive skin lesions, including hyperpigmentation and blistering.
- Their fresh urine was wine-red and fluoresced under UV light.
- Peripheral blood contained fluorocytes, indicative of porphyrin accumulation.
Findings:
- Porphyrin analysis revealed elevated levels of Type I uro- and coproporphyrin in red blood cells, urine, and feces.
- Levels of delta-aminolaevulinate and porphobilinogen were normal.
- These biochemical findings are consistent with erythropoietic porphyria.
Implications:
- The cases suggest a potential for late-onset erythropoietic porphyria, even in individuals without a family history of symptoms.
- This expands the known clinical spectrum and age of presentation for EP.
- Highlights the importance of biochemical porphyrin analysis for diagnosing rare metabolic disorders.