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

Xeroderma pigmentosum variant with multisystem involvement.

A Hessel1, R J Siegle, D L Mitchell

  • 1Division of Dermatology, Ohio State University, Columbus.

Archives of Dermatology
|September 1, 1992
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

In Situ Measurements of Thermal Ion Temperature in the Martian Ionosphere.

Journal of geophysical research. Space physics·2022
Same author

The Space Physics Environment Data Analysis System (SPEDAS).

Space science reviews·2019
Same author

Ion Densities in the Nightside Ionosphere of Mars: Effects of Electron Impact Ionization.

Geophysical research letters·2018
Same author

[Temporary Disability Pension from the Perspective of the Individual: Self-Reported Physical and Mental Health, Medical Rehabilitation, and Return to Work Plans].

Die Rehabilitation·2016
Same author

Discovery of diffuse aurora on Mars.

Science (New York, N.Y.)·2015
Same author

Nodule on the cheek of an 81-year-old woman.

Archives of dermatology·2014
Same journal

Scoring With SCORTEN-Reply.

Archives of dermatology·2017
Same journal

Comparison of Early and Late Latent Syphilis- Colorado, 1991.

Archives of dermatology·2016
Same journal

Case of Rhinoscleroma.

Archives of dermatology·2016
Same journal

Cutaneous Fungal Infections.

Archives of dermatology·2016
Same journal

An Ulcerated Plaque in a Gay Man.

Archives of dermatology·2016
Same journal

Solitary Violaceous Nodule on the Face.

Archives of dermatology·2016
See all related articles

Xeroderma pigmentosum (XP) variant patients typically lack neurological issues, but this study details a rare case with severe symptoms. This highlights the need for laboratory confirmation to define XP variant classification.

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Xeroderma pigmentosum (XP) is a rare genetic disorder with seven complementation groups (A-G) and a variant form, all linked to DNA repair deficiencies.
  • XP patients exhibit increased skin cancer risk due to impaired DNA repair of UV-induced damage.
  • Neurological problems, including the DeSanctis-Cacchione syndrome, are associated with XP groups A, B, D, and G.

Observation:

  • A patient with consanguineous parents presented with severe multisystem involvement resembling DeSanctis-Cacchione syndrome.
  • Laboratory analysis revealed DNA replication patterns characteristic of XP variant post-UV irradiation.
  • The patient's cells demonstrated normal UV sensitivity and excision repair, aligning with XP variant classification, but exhibited unusual neurological symptoms.

Findings:

Related Experiment Videos

  • The patient was definitively classified as XP variant due to normal survival, caffeine response, DNA repair, and deficient replication of UV-damaged DNA.
  • The co-occurrence of severe neurological symptoms in this XP variant patient is highly unusual.
  • While consanguinity raises the possibility of unrelated genetic factors, other XP variant cases from consanguineous families lack such neurological abnormalities.

Implications:

  • This case underscores the critical role of laboratory diagnostics in classifying Xeroderma pigmentosum variant, irrespective of clinical presentation.
  • The findings suggest that neurological complications, though rare, can occur in XP variant patients.
  • Further research is needed to understand the genetic mechanisms underlying neurological involvement in XP variant and its potential link to consanguinity.