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

The cutaneous porphyrias.

G H Elder1

  • 1Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff, United Kingdom.

Seminars in Dermatology
|March 1, 1990
PubMed
Summary
This summary is machine-generated.

The cutaneous porphyrias are genetic disorders of heme biosynthesis causing photosensitivity due to porphyrin buildup. Diagnosis involves measuring porphyrins, and treatments vary from iron depletion for PCT to symptomatic care for others.

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

Linking economic hardship to adolescent aggression.

Journal of youth and adolescence·2013
Same author

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

The British journal of dermatology·2010
Same author

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma--reply.

The British journal of dermatology·2009
Same author

The molecular genetics of erythropoietic protoporphyria.

Cellular and molecular biology (Noisy-le-Grand, France)·2009
Same author

Serum 25-hydroxyvitamin D in erythropoietic protoporphyria.

The British journal of dermatology·2008
Same author

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

The British journal of dermatology·2007
Same journal

Genital herpes simplex virus and its treatment: focus on famciclovir.

Seminars in dermatology·1996
Same journal

Efficacy of famciclovir in the treatment of herpes zoster.

Seminars in dermatology·1996
Same journal

The pharmacological profile of famciclovir.

Seminars in dermatology·1996
Same journal

Epidemiology and management of postherpetic neuralgia.

Seminars in dermatology·1996
Same journal

Varicella-zoster virus: overview and clinical manifestations.

Seminars in dermatology·1996
Same journal

Advances in the management of herpesvirus infections. Introduction.

Seminars in dermatology·1996
See all related articles

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology

Background:

  • Cutaneous porphyrias are a group of genetic disorders stemming from heme biosynthesis pathway disruptions.
  • These conditions lead to excessive porphyrin accumulation, causing photosensitivity and characteristic skin manifestations.
  • Five primary types exist: porphyria cutanea tarda (PCT), variegate porphyria (VP), hereditary coproporphyria (HC), erythropoietic protoporphyria (EPP), and congenital erythropoietic porphyria (CEP).

Purpose of the Study:

  • To outline the classification and diagnostic approaches for cutaneous porphyrias.
  • To describe the distinct clinical features and genetic underpinnings of each type.
  • To summarize current treatment strategies for these photosensitive disorders.

Main Methods:

  • Biochemical analysis of heme precursors (porphyrins) in biological samples (urine, feces, erythrocytes, plasma) to differentiate between porphyria types.

Related Experiment Videos

  • Clinical observation and documentation of skin lesions, photosensitivity, and acute attacks.
  • Review of genetic inheritance patterns (autosomal dominant and recessive).

    • Main Results:

    • Cutaneous porphyrias present with varied clinical manifestations, including mechanical fragility, bullae, hypertrichosis, and pigmentation, with EPP notable for acute photosensitivity.
    • VP, HC, EPP, and one form of PCT are autosomal dominant, while CEP and homozygous forms are rare autosomal recessive disorders.
    • PCT is the most common type, often linked to alcohol and chronic liver disease, treatable with venesection or chloroquine; EPP management involves beta-carotene, and other types require symptomatic treatment.

    Conclusions:

    • Cutaneous porphyrias are a heterogeneous group of disorders requiring precise diagnostic methods for accurate classification.
    • Understanding the specific type of porphyria is crucial for effective management and treatment.
    • While some forms like PCT have specific treatments, others rely on symptomatic relief and photoprotection.