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

[Hereditary photodermatoses].

P Poblete-Gutiérrez1, W H C Burgdorf, C Has

  • 1Department of Dermatology, University Hospital, Academische Zuikenhuis Maastricht, P. Debyelaan 25, 6202 AZ Maastricht.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|November 1, 2006
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

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024
Same author

IL-6 levels dominate the serum cytokine signature of severe epidermolysis bullosa: A prospective cohort study.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024
Same author

Integrin α3 negative podocytes: A gene expression study.

Matrix biology plus·2022
Same author

Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.

Skin health and disease·2022
Same author

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022
Same author

Esophageal carcinoma in severe recessive dystrophic epidermolysis bullosa-an underestimated complication?

Journal of the European Academy of Dermatology and Venereology : JEADV·2021

Hereditary photodermatoses cause increased sun sensitivity due to single gene defects, often appearing in childhood. Early diagnosis and genetic counseling are crucial for managing these rare, difficult-to-treat conditions.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Context:

  • Hereditary photodermatoses are rare genetic disorders characterized by extreme sun sensitivity.
  • These conditions typically manifest in early childhood with diverse clinical presentations.
  • Management is often challenging, necessitating accurate diagnostic approaches.

Purpose:

  • To review the spectrum of inherited photodermatoses.
  • To highlight the importance of early and accurate diagnosis.
  • To discuss diagnostic methods including clinical evaluation, specific tests, and DNA analysis.

Summary:

  • The review covers various inherited photodermatoses such as porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and DNA repair disorders (xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, Bloom syndrome).

Related Experiment Videos

  • Accurate diagnosis relies on clinical symptoms, specialized testing, and DNA analysis.
  • These rare disorders stem from single gene defects leading to heightened photosensitivity.

    • Impact:

    • Early diagnosis can prevent sun-exposure complications.
    • Facilitates genetic counseling for at-risk families.
    • Enables prenatal diagnosis for families with known hereditary photodermatoses.