This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
January 2024 in “Australasian journal of dermatology (Print)” In this case study, researchers documented a Chinese boy with hair color changing to red and identified MC1R genetic mutations as the cause, rather than zinc deficiency, enhancing our understanding of hair heterochromia due to genetic factors.
January 2026 in “Clinical and Experimental Dermatology” In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.
June 2025 in “British Journal of Dermatology” This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.