178 citations
,
June 1994 in “Journal of Investigative Dermatology” Alopecia areata in these mice is inherited, more common in young females, and can be treated with triamcinolone acetonide.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
77 citations
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June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
18 citations
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July 2010 in “Journal of the American Academy of Dermatology” Folliculotropic mycosis fungoides can look like alopecia areata.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
30 citations
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July 2019 in “PloS one” Patients with Alopecia areata have fewer specific immune cells that normally regulate the immune system, which may contribute to the condition.
29 citations
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July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
85 citations
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July 2002 in “Pigment Cell Research” The article concludes that while we understand a lot about how melanocytes age and how this can prevent cancer, there are still unanswered questions about certain pathways and genes involved.
March 2026 in “Journal of Investigative Dermatology” May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.
12 citations
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February 2010 in “Journal of the European Academy of Dermatology and Venereology” Some people with chronic hair loss may have thyroid autoimmunity.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
15 citations
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March 1996 in “PubMed” Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
28 citations
,
December 2017 in “Journal of Investigative Dermatology Symposium Proceedings” Tofacitinib shows promise for treating severe hair loss in adults and teens, with many experiencing regrowth, but hair loss returns when treatment stops.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
143 citations
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January 2004 in “Journal of Investigative Dermatology Symposium Proceedings” Alopecia areata is an autoimmune disease causing hair loss, treatable with immune-modulating drugs, and linked to genetics.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
1 citations
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.