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

Multiple Allele Traits01:49

Multiple Allele Traits

32.3K
The Concept of Multiple Allelism
32.3K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

3.3K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
3.3K
Pleiotropy01:33

Pleiotropy

31.0K
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,...
31.0K
Meiosis I01:49

Meiosis I

176.2K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
176.2K
Desmosomes01:05

Desmosomes

7.3K
The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
7.3K
Nondisjunction01:21

Nondisjunction

4.3K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.3K

You might also read

Related Articles

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

Sort by
Same author

Exploring Career Prospects in Oral and Maxillofacial Pathology and Oral Medicine Among Final-Year Brazilian Dental Students: A Multi-institutional Study.

Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·2026
Same author

Analysis of the profile of patients admitted to an orofacial cleft rehabilitation service: An observational study, Cuiabá, 2005-2023.

Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil·2025
Same author

Clinical and imaging evaluation and therapeutic approach of 42 cases of odontogenic myxomas.

Oral surgery, oral medicine, oral pathology and oral radiology·2025
Same author

Residual dentin thickness in maxillary first premolars with palatal groove after endodontic and restorative procedures: An e-Vol DX analysis.

Journal of clinical and experimental dentistry·2025
Same author

Upper Airway Morphologic Changes in Rubinstein-Taybi Syndrome After Orthognathic Surgery: A Case Report.

Journal of maxillofacial and oral surgery·2025
Same author

A Large Multicenter Brazilian Case-Control Study Exploring Genetic Variations in Interferon Regulatory Factor 6 and the Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.

International journal of molecular sciences·2025

Related Experiment Video

Updated: Apr 21, 2026

Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry
08:23

Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry

Published on: November 5, 2019

11.2K

Ectodermal dysplasia associated with sickle cell disease.

Luiz Evaristo Ricci Volpato1, Maria Carmen Palma Faria Volpato1, Artur Aburad de Carvalhosa1

  • 1Department of Post-Graduation, Master Program in Integrated Dentistry Science, University of Cuiabá, Avenida Manoel José de Arruda No. 3.100, 78050-000 Cuiabá, MT, Brazil.

Case Reports in Dentistry
|October 25, 2014
PubMed
Summary

This case report details a rare instance of ectodermal dysplasia co-occurring with sickle cell anaemia in a child. Early recognition of ectodermal dysplasia symptoms is crucial for diagnosing systemic conditions.

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

12.4K
Generation of ESC-derived Mouse Airway Epithelial Cells Using Decellularized Lung Scaffolds
12:31

Generation of ESC-derived Mouse Airway Epithelial Cells Using Decellularized Lung Scaffolds

Published on: May 5, 2016

8.0K

Related Experiment Videos

Last Updated: Apr 21, 2026

Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry
08:23

Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry

Published on: November 5, 2019

11.2K
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

12.4K
Generation of ESC-derived Mouse Airway Epithelial Cells Using Decellularized Lung Scaffolds
12:31

Generation of ESC-derived Mouse Airway Epithelial Cells Using Decellularized Lung Scaffolds

Published on: May 5, 2016

8.0K

Area of Science:

  • Medical Genetics
  • Hematology
  • Dermatology

Background:

  • Ectodermal dysplasia is a group of inherited disorders affecting ectodermal derivatives.
  • Sickle cell anaemia is a genetic blood disorder impacting red blood cell production.
  • The co-occurrence of these two inherited conditions is exceptionally rare.

Purpose of the Study:

  • To report a rare case of simultaneous ectodermal dysplasia and sickle cell anaemia in a pediatric patient.
  • To highlight the importance of recognizing clinical signs of ectodermal dysplasia in patients with other known genetic disorders.

Main Methods:

  • Case report of a 6-year-old patient.
  • Clinical examination including assessment of skin, hair, teeth, and facial features.
  • Review of patient's medical history, including diagnosis of sickle cell anaemia.

Main Results:

  • The patient presented with hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth.
  • These clinical findings, alongside the history of sickle cell anaemia, led to the diagnosis of ectodermal dysplasia.
  • This represents an extremely rare co-occurrence of two distinct inherited disorders.

Conclusions:

  • Dentists play a vital role in identifying systemic diseases through oral and dental manifestations.
  • Awareness of ectodermal dysplasia signs is important for early diagnosis, even in patients with pre-existing conditions like sickle cell anaemia.
  • Integrated diagnostic approaches are essential for managing complex pediatric cases with multiple genetic conditions.