August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
4 citations
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November 2016 in “Journal of Cutaneous Pathology” This letter discusses three plasmacytoid dendritic cell-related parameters that may help differentiate lupus alopecia from lichen planopilaris, but it reports no new study results.
2 citations
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April 2023 in “American Journal of Dermatopathology” This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.
64 citations
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June 2014 in “Journal of The American Academy of Dermatology” This study found that a peripilar white gray halo around hair emergence is a highly specific and sensitive dermatoscopic feature for diagnosing central centrifugal cicatricial alopecia in African American patients with mild central thinning.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
5 citations
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October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
46 citations
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July 2008 in “Dermatologic Therapy” This study developed and evaluated a photographic scale to assess CCCA pattern and severity in African American women, finding it reproducible when used by investigators and participants.
3 citations
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February 2022 in “Journal of the American Academy of Dermatology” This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
45 citations
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March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
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.
February 2026 in “ACS Applied Materials & Interfaces” This study developed a novel treatment method using carbon dots from Cinnamomum burmannii leaves, which improved hair regeneration and thickness in an AGA mouse model by promoting cell proliferation, angiogenesis, and reducing inflammation through multiple signaling pathways.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This case report suggests that in African-American patients, the histology of Central Centrifugal Cicatricial Alopecia may resemble lichen planopilaris, indicating a potential diagnostic challenge.
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.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
10 citations
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December 2015 in “International Journal of Molecular Sciences” This study suggests that PDCD4 regulates keratinocyte proliferation and contact inhibition, playing a role in epidermal homeostasis and wound healing.
2 citations
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August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.