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

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,...
Introduction to Language of Pathophysiology ll01:17

Introduction to Language of Pathophysiology ll

This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Poliomyelitis01:17

Poliomyelitis

Poliomyelitis is caused by poliovirus, a small, non-enveloped, positive-sense RNA virus of the Picornaviridae family and Enterovirus genus. Transmission occurs primarily via the fecal-oral route, often through ingestion of contaminated water or food. The virus initially replicates in the oropharynx and intestinal mucosa, particularly in lymphoid tissues such as the tonsils, Peyer’s patches, and regional lymph nodes. Primary viremia follows, allowing dissemination throughout the body.In most...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...

You might also read

Related Articles

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

Sort by
Same author

Preoperative vascular parameters and proximal splenorenal shunt patency in pediatric extrahepatic portal vein thrombosis.

Pediatric surgery international·2026
Same author

Comparison of Vitamin B12 Deficiency and Insufficiency in Children in Terms of Hemogram Parameters.

Turkish archives of pediatrics·2026
Same author

Response to the letter to the editor: "Expanding the health-related behavior perspective on problematic internet use in adolescents".

The Turkish journal of pediatrics·2026
Same author

A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·2026
Same author

Diagnostic delay in children with coeliac disease: a national multicentre study in Turkey.

BMC gastroenterology·2026
Same author

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.

Molecular syndromology·2025

Related Experiment Video

Updated: Jun 5, 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

Eponym: Papillon-Lefevre syndrome.

Buket Dalgıc1, Aysegul Bukulmez, Sinan Sarı

  • 1Department of Pediatric Gastroenterology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey.

European Journal of Pediatrics
|December 18, 2010
PubMed
Summary

Papillon-Lefevre Syndrome (PLS) is a rare genetic disorder causing skin and severe dental issues. Early diagnosis and multidisciplinary care improve patient outcomes for this condition.

Area of Science:

  • Genetics and Rare Diseases
  • Dermatology
  • Periodontology

Background:

  • Papillon-Lefevre Syndrome (PLS) is an extremely rare autosomal recessive disorder.
  • Characterized by palmoplantar hyperkeratosis and severe, early-onset periodontitis affecting both primary and permanent teeth.
  • First described in 1924, its etiology involves genetic, immunologic, and microbiologic factors.

Purpose of the Study:

  • To summarize the key features and management of Papillon-Lefevre Syndrome.
  • To highlight recent genetic findings, specifically cathepsin C gene mutations.
  • To emphasize the importance of a multidisciplinary approach in managing PLS.

Main Methods:

  • Literature review of Papillon-Lefevre Syndrome.
  • Analysis of genetic, clinical, and etiological factors.

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Related Experiment Videos

Last Updated: Jun 5, 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

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

  • Review of current management strategies and prognosis.

    • Main Results:

    • PLS is linked to palmoplantar hyperkeratosis and aggressive periodontitis.
    • A cathepsin C gene mutation is a recently identified cause.
    • Effective management relies on early recognition and comprehensive care.

    Conclusions:

    • Papillon-Lefevre Syndrome requires a multidisciplinary approach for optimal outcomes.
    • Early diagnosis and consistent professional/home care significantly improve prognosis.
    • Understanding the genetic basis aids in diagnosis and potential therapeutic targets.