Related Experiment Video
Updated: Jan 10, 2026
A New Technique for Quantitative Analysis of Hair Loss in Mice Using Grayscale Analysis
Published on: March 9, 2015
Genetic syndromes in paediatric alopecia areata: a systematic review
Megan Park1, Emma Price1, Cathryn Sibbald2
1Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Insights
This review identified 33 genetic syndromes associated with alopecia areata (AA) in children. Understanding these rare conditions aids in early diagnosis and personalized treatment strategies for pediatric AA.
Area of Science:
- Pediatric Dermatology
- Clinical Genetics
- Syndromology
Background:
- Alopecia areata (AA) presents diverse phenotypes, particularly in pediatric cases.
- Genetic syndromes are increasingly recognized as contributing factors to pediatric AA.
- Characterizing these syndromes is crucial for comprehensive patient management.
Purpose of the Study:
- To systematically identify and describe pediatric syndromes associated with alopecia areata.
- To summarize the clinical features of these syndromes.
- To review the current status of their genetic elucidation.
Main Methods:
- A systematic literature search was conducted following PRISMA guidelines across major databases (MEDLINE, Embase, CENTRAL, PubMed).
- Included were studies on children (<18 years) with AA and monogenic or chromosomal syndromes.
- Additional data were sourced from OMIM, Orphanet, reviews, and clinical guidelines.
Main Results:
- The review identified 33 distinct genetic syndromes associated with pediatric alopecia areata.
- Prevalence data were available for 79% of syndromes, with many being extremely rare (<1/1,000,000).
- Sixty-seven percent of syndromes were fully genetically elucidated, while others were partially or not elucidated, or involved chromosomal abnormalities.
Conclusions:
- This review consolidates knowledge on genetic syndromes linked to pediatric alopecia areata.
- It highlights the importance of recognizing these syndromes for early prediction and diagnosis.
- Insights gained facilitate the development of personalized treatment approaches for affected children.
Background:
A wide variation of phenotypes is displayed by individuals with alopecia areata (AA), especially in the paediatric population.
Objectives:
To systematically search published studies to identify paediatric syndromes with AA and their clinical features, and to summarize the current state of their genetic elucidation.
Methods:
In accordance with the PRISMA guidelines, a systematic search of MEDLINE, Embase, CENTRAL and PubMed databases was performed. All original case reports, case series and observational studies describing AA in children (aged <18 years) with monogenic or chromosomal syndromes were included. Further searches in OMIM and Orphanet, and reviews, clinical guidelines and basic science studies were used to retrieve additional comprehensive information on each syndrome.
Results:
After title and abstract screening of 1426 studies, and full-text review of 224 studies, 64 met the inclusion criteria and are summarized in this review. Overall, the search identified 33 genetic syndromes with paediatric AA. Prevalence estimates were available for 79% (n = 26/33) of syndromes, with 45% (n = 15/33) of syndromes presenting in fewer than 1/1 000 000 individuals. Sixty-seven per cent (n = 22/33) of syndromes were fully genetically elucidated; 12% (n = 4/33) were partially elucidated; 9% (n = 3/33) were not genetically elucidated; and 12% (n = 4/33) were syndromes with chromosomal abnormalities. Seventy-nine per cent (n = 26/33) of syndromes were described by only one report, while 21% (n = 7/33) were described in multiple independent reports.
Conclusions:
Despite the limited knowledge of these syndromes, this review provides insights into the range of genetic syndromes with paediatric AA and their clinical features, facilitating early prediction, diagnosis and personalized treatments.
Related Concept Videos
01:43Incomplete Dominance
01:35Pedigree Analysis
01:33Pleiotropy
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:41Lethal Alleles
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...
01:20Accessory Structures of the Skin: Hair Growth and Types