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 Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...

You might also read

Related Articles

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

Sort by
Same author

Epidemiology of bone tumors in children and adolescents: a retrospective study of 266 patients in the south of Tunisia.

Acta orthopaedica Belgica·2024
Same author

Relapse of acute lymphoblastic leukemia revealed by an optic neuropathy.

Revue neurologique·2019
Same author

Seroprevalence of Bordetella pertussis toxin antibodies in children and adolescents in Tunis, Tunisia.

Epidemiology and infection·2019
Same author

Annales de dermatologie et de venereologie·2018
Same author

Karyometry of malignant melanoma cells present in skin strippings.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2016
Same author

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.

The British journal of dermatology·2015

Related Experiment Video

Updated: Jun 25, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

[Neurological abnormalities in xeroderma pigmentosum].

N El Fékih1, M Fredj, H Aounallah-Skhiri

  • 1Service de dermatologie, hôpital Charles-Nicolle de Tunis, Tunis, Tunisie. fekih.nadia@planet.tn

Revue Neurologique
|March 10, 2009
PubMed
Summary

Xeroderma pigmentosum (XP) is a rare genetic disorder. This study found neurological abnormalities in 33.9% of Tunisian XP patients, with moderate XP showing more frequent neurological issues than severe XP.

More Related Videos

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Related Experiment Videos

Last Updated: Jun 25, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Area of Science:

  • Genetics and rare diseases
  • Neurology
  • Dermatology

Context:

  • Xeroderma pigmentosum (XP) is an autosomal recessive disorder.
  • XP patients exhibit extreme sun sensitivity, leading to skin issues and increased cancer risk.
  • Neurological complications are known to occur in some XP cases.

Purpose:

  • To investigate the specific neurological abnormalities observed in Tunisian patients with Xeroderma pigmentosum.
  • To analyze the prevalence and characteristics of neurological disorders within this patient cohort.

Summary:

  • A retrospective study analyzed 62 Tunisian patients with Xeroderma pigmentosum (XP) between 1992 and 2007.
  • Neurological abnormalities were present in 33.9% of patients, including mental retardation, pyramidal and cerebellar syndromes, and peripheral neuropathy.
  • No neurological disorders were noted in XP-variant patients, and abnormalities were more frequent in moderate XP cases compared to severe XP.

Impact:

  • Highlights the significant prevalence of neurological complications in XP patients from Tunisia.
  • Suggests a potential link between XP subtypes (moderate vs. severe) and neurological involvement.
  • Underscores the genetic heterogeneity of Xeroderma pigmentosum and its diverse clinical manifestations.