September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
14 citations
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March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
10 citations
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May 2020 in “International Journal of Molecular Sciences” This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
28 citations
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June 1998 in “Clinical Genetics” This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
51 citations
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November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
95 citations
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February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
May 2023 in “International journal of molecular sciences” This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.
August 2023 in “JAAD international” This study, conducted at Montefiore Medical Center, reports that central centrifugal cicatricial alopecia predominantly affects middle-aged Black or African American women, often presenting without symptoms, which may delay diagnosis and treatment. The study underscores the need for a specific ICD-10 code for better epidemiological studies.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” In this study, researchers found that knockdown of ABCA5 in primary human hair follicle keratinocytes disrupted cholesterol homeostasis and transportation, suggesting its potential role in hair growth disorders by affecting intracellular cholesterol compartmentalization and LXR-mediated transcriptional activity.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
July 2016 in “Hair transplant forum international” This article discusses participation in the Brazilian Association of Hair Restoration Surgery's workshop on hair transplantation but does not present any new research findings.
April 2024 in “Journal of the American Academy of Dermatology” Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
July 2024 in “Journal of Investigative Dermatology” Hair follicles are crucial for maintaining skin barrier function.
2 citations
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June 2012 in “PubMed” This article reports three cases of African American men with central centrifugal cicatricial alopecia, highlighting the need to consider this diagnosis for male patients with vertex hair loss and scalp symptoms.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.