Defective nuclear transport may cause gene expression changes in Progeria.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
1 citations
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
6 citations
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June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
May 2012 in “CRC Press eBooks” Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
November 2022 in “Journal of Investigative Dermatology” Cell-based therapy using specific immune cells may help treat alopecia areata by promoting hair regrowth.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
1 citations
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September 2023 in “Journal of the American Academy of Dermatology” Continued ritlecitinib treatment can lead to hair regrowth in some patients with alopecia areata who initially don't respond.
6 citations
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May 2013 in “The Journal of Dermatology” Autoimmune reactions may cause both alopecia areata and HAM.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
December 2025 in “The Journal of Dermatology” Ritlecitinib effectively reduces hair loss in JAK inhibitor-naïve alopecia areata patients.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
1 citations
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September 2023 in “Rheumatology advances in practice” A woman's rare scalp condition worsened after using a specific arthritis medication, suggesting such medications can sometimes trigger or aggravate psoriasis.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
51 citations
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March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
July 2024 in “Journal of Investigative Dermatology” JAK inhibitors improve hair growth in alopecia areata, especially in patchy types.
February 2025 in “International Journal of Molecular Sciences” RIPK1 inhibitors may help prevent alopecia areata by reducing immune cell activity.
717 citations
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June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
May 2023 in “The Journal of Immunology” Alopecia areata involves unique activation of certain immune cells.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
October 2023 in “International journal of rheumatic diseases” New treatments targeting the JAK signaling pathway, especially JAK inhibitors, show promise for alopecia areata.