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

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
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,...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...

You might also read

Related Articles

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

Sort by
Same author

Fine mapping of stem rust resistance derived from soft red winter wheat cultivar AGS2000 to an NLR gene cluster on chromosome 6D.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2024
Same author

Dermatophytic disease with deficit in CARD9: A new case with a brain impairment.

Journal de mycologie medicale·2017
Same author

[Aggregatibacter actinomycetemcomitans and Porphyromonas gingivalis in aggressive periodontitis in Morocco -- preliminary study].

Odonto-stomatologie tropicale = Tropical dental journal·2014
Same author

Antibacterial activity of essential oils against periodontal pathogens: a qualitative systematic review.

Odonto-stomatologie tropicale = Tropical dental journal·2013
Same author

Screening for periodontopathogenic bacteria in severe chronic periodontitis in a Moroccan population.

Medecine et maladies infectieuses·2012
Same author

Small bowel parasitosis.

Clinics and research in hepatology and gastroenterology·2011

Related Experiment Video

Updated: May 9, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

[Cowden syndrome].

O Ennibi1, M Guedira, N Amrani

  • 1Service de parodontologie, faculté de médecine dentaire, université Mohammed V Souissi, Rabat, Morocco. o.ennibi@um5s.net.ma

Revue De Stomatologie, De Chirurgie Maxillo-Faciale Et De Chirurgie Orale
|July 11, 2013
PubMed
Summary
This summary is machine-generated.

Gingival hypertrophy can be an early sign of Cowden syndrome, a rare genetic disorder. Prompt diagnosis through oral symptoms aids in early cancer screening and management.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
07:26

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

Published on: January 31, 2025

Related Experiment Videos

Last Updated: May 9, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
07:26

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

Published on: January 31, 2025

Area of Science:

  • Medical Genetics
  • Oral Medicine
  • Dermatology

Background:

  • Cowden syndrome is a rare genetic disorder characterized by an increased risk of developing benign and malignant tumors.
  • Oral manifestations are common but often overlooked, delaying diagnosis.
  • Gingival hypertrophy can be a presenting sign of Cowden syndrome.

Observation:

  • A 21-year-old female presented with gingival hypertrophy and oral papules.
  • She had a prior history of thyroid lobectomy for goiter.
  • Clinical examination revealed facial skin papules, consistent with Cowden syndrome.

Findings:

  • Diffuse gingival papillomatosis served as a key indicator for Cowden syndrome.
  • The diagnosis was confirmed through clinical assessment of characteristic skin lesions.
  • Cowden syndrome is associated with a high risk of breast and thyroid cancers.

Implications:

  • Gingival papillomatosis warrants consideration for Cowden syndrome screening.
  • Early diagnosis facilitates timely cancer surveillance for breast and thyroid malignancies.
  • Regular follow-up is crucial for patients diagnosed with Cowden syndrome.