Related Experiment Video

Updated: May 25, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Mucocutaneous disorders in children with down syndrome: case-controlled study

S Gunes Bilgili1, N Akdeniz, A S Karadag

  • 1Department of Dermatology, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey. drserapgunes@yahoo.com

Genetic Counseling (Geneva, Switzerland)
|February 7, 2012
PubMed

Insights

Children with Down syndrome (DS) have a higher prevalence of mucocutaneous disorders, including xerosis and Mongolian spots. Early identification and management of these skin conditions in DS patients are crucial for improved health outcomes.

Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome (DS) is the most common chromosomal anomaly, affecting multiple organ systems, including the skin.
  • Mucocutaneous disorders are frequently observed in individuals with DS, impacting their quality of life.

Purpose of the Study:

  • To compare the frequency of mucocutaneous disorders in children with Down syndrome versus healthy children.
  • To identify common and rare dermatological conditions associated with Down syndrome.

Main Methods:

  • A case-control study involving 50 children with Down syndrome and 50 healthy controls.
  • Systematic examination of mucocutaneous abnormalities in both groups.

Main Results:

  • Xerosis and Mongolian spots were the most prevalent skin findings in children with DS.
  • Seborrheic dermatitis, cheilitis, and fissured tongue were also significantly more common in the DS group (p<0.05).
  • Rare findings included plantar hyperkeratosis, alopecia areata, and various infections.

Conclusions:

  • Children with Down syndrome exhibit a significantly higher prevalence of specific mucocutaneous disorders compared to healthy individuals.
  • Further large-scale epidemiological studies are needed to better understand and manage dermatological conditions in children with DS.
Abstract

More Related Videos

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis07:56

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Related Concept Videos

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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 disorders...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
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.
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.
Meiosis I01:49

Meiosis I

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 a...