Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

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,...

Lysosomal Hydrolases

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,...

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

You might also read

Related Articles

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

Sort by

Same author

Persistent facial discoid dermatosis successfully treated with topical calcipotriol.

Clinical and experimental dermatology·2021

Same author

HYPOTHYROIDISM AND GOITER IN A YOUNG MALE WITH SUSPECTED DIETARY IODINE DEFICIENCY FOLLOWED BY THYROTOXICOSIS AFTER IODINE SUPPLEMENTATION.

AACE clinical case reports·2020

Same author

BK Virus Nephropathy: Prevalence, Impact and Management Strategies.

International journal of nephrology and renovascular disease·2020

Same author

The Mystery of a Unilateral Nonreacting Pupil.

Journal of neurosurgical anesthesiology·2020

Same author

Development and Characterization of Biocompatible Mannose Functionalized Mesospheres: an Effective Chemotherapeutic Approach for Lung Cancer Targeting.

AAPS PharmSciTech·2020

Same author

Evaluation of Roles of MicroRNA-21 and MicroRNA-18a in Esophageal Squamous Cell Carcinoma and Comparison of Their Changes in Expression Post-Chemoradiotherapy.

Gastroenterology research·2020

Search research articles

Related Experiment Video

Updated: Mar 8, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Papillon-lefevre Syndrome.

A J Kanwar, Surrinder Kaur, Rajeev Sharma

Indian Journal of Dermatology, Venereology and Leprology

|January 31, 2017

Summary

This summary is machine-generated.

Papillon-Lefevre syndrome in a 13-year-old girl caused severe palmar-plantar keratoderma, early tooth loss, and gingivitis. Despite recurrent skin infections, no immune system issues were detected.

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Published on: May 1, 2015

Related Experiment Videos

Last Updated: Mar 8, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Published on: May 1, 2015

Area of Science:

Dermatology
Genetics
Pediatrics

Background:

Papillon-Lefevre syndrome is a rare autosomal recessive disorder.
It is characterized by hyperkeratosis of the palms and soles and severe periodontitis.

Purpose of the Study:

To describe a case of Papillon-Lefevre syndrome in a pediatric patient.
To highlight the clinical manifestations and associated findings.

Main Methods:

Clinical case presentation.
Review of patient's medical history and physical examination findings.

Main Results:

The patient presented with characteristic palmar-plantar keratoderma, early primary tooth loss, and gingivitis.
Recurrent skin infections were noted as a significant clinical feature.
No underlying immunological abnormalities were identified.

Conclusions:

Papillon-Lefevre syndrome presents with distinct dermatological and dental manifestations.
The absence of immunological defects in this case is noteworthy.
Early diagnosis and management are crucial for affected individuals.