Related Experiment Video
Updated: Jun 19, 2026

07:50
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
X-linked hypohidrotic ectodermal dysplasia: a ten-year case report and clinical considerations
1University of Rome La Sapienza, Department of Dental Sciences. susannadalloca@virgilio.it
European Journal of Paediatric Dentistry
|November 6, 2009
Summary
Early diagnosis and timely dental interventions are crucial for managing X-linked Hypohidrotic-Ectodermal Dysplasia (XLHED) with oligodontia, improving long-term patient outcomes.
Area of Science:
- Genetics
- Pediatric Dentistry
- Craniofacial Anomalies
Background:
- Ectodermal Dysplasias (EDs) are a diverse group of genetic syndromes affecting ectodermal structures.
- Dental anomalies, including oligodontia, are common and severe in EDs, impacting both primary and permanent teeth.
Observation:
- A ten-year oral rehabilitation case of a child with X-linked Hypohidrotic-Ectodermal Dysplasia (XLHED) and oligodontia is presented.
- The case highlights the etiology of EDs and the long-term prognosis associated with the condition.
Findings:
- Successful treatment hinges on early diagnosis and appropriate timing of dental interventions.
- Key interventions include preserving existing teeth, early functional rehabilitation, and aesthetic correction.
Implications:
- This case underscores the importance of a multidisciplinary approach in managing complex dental anomalies in children with EDs.
- Early and precise management strategies can significantly improve the quality of life for affected individuals.
Related Concept Videos
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...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Renal Tubule and Collecting Duct
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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,...
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.
Smooth Endoplasmic Reticulum
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
