Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2008 Jun;167(6):703-6.
doi: 10.1007/s00431-007-0557-1. Epub 2007 Aug 21.

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel

Anne L Y Lecluse  1 , Veronica C M Kuck-Koot, Huib van Weelden, Vigfus Sigurdsson, Ingrid M Russel, Jorge Frank, Suzanne G M A Pasmans
Affiliations
Case Reports

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel

Anne L Y Lecluse et al. Eur J Pediatr. 2008 Jun.

Abstract

Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet, and nose following sun exposure. Objective skin lesions were absent until the age of 6. Porphyrin analysis revealed elevated free erythrocyte protoporphyrin (FEP) levels confirming the diagnosis of EPP. This illustrates that skin lesions might be completely absent in children affected with EPP, a fact that has only been reported once previously. Because EPP can manifest with few and unspecific cutaneous symptoms or no skin lesions at all, like in this patient, the diagnosis of EPP might be delayed or missed. EPP should be excluded in all photosensitive children, especially when discomfort is disproportionate to the extent of the cutaneous lesions. The clinic, pathophysiology, diagnosis, complications, and therapy of EPP are discussed.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
In the mitochondrium, ferrochelatase catalyzes the formation of heme from protoporphyrin IX. ALA: δ-aminolevulinic acid
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1007/s00431-004-1453-6', 'is_inner': False, 'url': 'https://doi.org/10.1007/s00431-004-1453-6'}, {'type': 'PubMed', 'value': '15241683', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/15241683/'}]}
    2. Alemzadeh R, Feehan T (2004) Variable effects of beta-carotene therapy in a child with erytropoietic protoporphyria. Eur J Pediatr 163:547–549 - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1001/archderm.129.5.635', 'is_inner': False, 'url': 'https://doi.org/10.1001/archderm.129.5.635'}, {'type': 'PubMed', 'value': '8481028', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/8481028/'}]}
    2. Burr RD, Tyler WB, Miller OF (1993) Burning discomfort and swelling of the hands and face of a young child-erythropoietic protoporphyria (EPP). Arch Dermatol 29(5):635–638 - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1016/0009-8981(76)90410-1', 'is_inner': False, 'url': 'https://doi.org/10.1016/0009-8981(76)90410-1'}, {'type': 'PubMed', 'value': '1261056', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/1261056/'}]}
    2. De Goeij AF, van Steveninck J (1976) Photodynamic effects of protoporphyrin on cholesterol and unsaturated fatty acids in erythrocyte membranes in protoporphyria and in normal red blood cells. Clin Chim Acta 68:115–122 - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1016/0002-9343(76)90528-3', 'is_inner': False, 'url': 'https://doi.org/10.1016/0002-9343(76)90528-3'}, {'type': 'PubMed', 'value': '1251847', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/1251847/'}]}
    2. DeLeo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC (1976) Erythropoietic protoporphyria-10 years experience. Am J Med 60:8–22 - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1001/archderm.107.5.689', 'is_inner': False, 'url': 'https://doi.org/10.1001/archderm.107.5.689'}, {'type': 'PubMed', 'value': '4702703', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/4702703/'}]}
    2. Epstein JH, Tuffanelli DL, Epstein WL (1973) Cutaneous changes in the porphyrias-a microscopic study. Arch Dermatol 107:689–698 - PubMed

Publication types

MeSH terms

Substances