Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Erythropoietic protoporphyria].

R de Sélys1, J Decroix, M Frankart

  • 1Service de Dermatologie, Faculté de Médecine, Cliniques universitaires Saint-Luc, Bruxelles.

Annales De Dermatologie Et De Venereologie
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Ophtalmological adverse events related to immune checkpoint inhibitors].

Revue medicale de Liege·2022
Same author

[Ten years ahead in infectious diseases : AIDS/ HIV towards stopping transmission].

Revue medicale de Liege·2020
Same author

[Therapeutic progress in the control of uncomplicated Plasmodium falciparum malaria].

Revue medicale de Liege·2020
Same author

[Association between exposure to persistent organic pollutants during pregnancy and thyroid function during childhood : a pilot longitudinal study and literature review].

Revue medicale de Liege·2020
Same author

Effect of target-enriched multiplex polymerase chain reaction on patient outcomes and costs during the 2013-14 influenza season.

The Journal of hospital infection·2017
Same author

Retrospective comparative analysis of cardiovascular implantable electronic device infections with and without the use of antibacterial envelopes.

The Journal of hospital infection·2017
Same journal

2024 guidelines (S3) for the therapeutic management of patients with genital herpes.

Annales de dermatologie et de venereologie·2026
Same journal

Topical JAK inhibitors in the lichen planus spectrum: a systematic review.

Annales de dermatologie et de venereologie·2026
Same journal

2024 recommendations for the therapeutic management of anogenital warts.

Annales de dermatologie et de venereologie·2026
Same journal

Successful use of thalidomide in treating metastatic Crohn's disease.

Annales de dermatologie et de venereologie·2026
Same journal

Multiple cutaneous juvenile xanthogranuloma: a monocentric study.

Annales de dermatologie et de venereologie·2026
Same journal

Cartilage-hair-hypoplasia associated with granulomatosis induced by rubella vaccine.

Annales de dermatologie et de venereologie·2026
See all related articles

This study reevaluates erythropoietic protoporphyria (EPP) signs and symptoms, highlighting the benefits of early diagnosis and treatment with beta-carotene. It also warns of potential retinopathy risks associated with this rare metabolic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology

Background:

  • Erythropoietic protoporphyria (EPP) is an inborn error of heme biosynthesis.
  • It results from ferrochelatase deficiency, leading to protoporphyrin accumulation.

Observation:

  • Three EPP cases were investigated, prompting a review of clinical manifestations.
  • Early skin biopsies and biochemical tests (protoporphyrin, ferrochelatase) were assessed for diagnostic utility.

Findings:

  • Literature review confirmed key features of EPP.
  • Treatment with beta-carotene and canthaxanthine is valuable for managing EPP symptoms.
  • A potential risk of "gold dust" retinopathy exists with these treatments.

Implications:

Related Experiment Videos

  • Early diagnosis and monitoring are crucial for EPP management.
  • Beta-carotene and canthaxanthine offer therapeutic benefits but require careful patient observation.
  • Further research into EPP pathogenesis and treatment side effects is warranted.