1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
7 citations
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June 2009 in “Journal of the European Academy of Dermatology and Venereology” Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
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.
2 citations
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August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
2 citations
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January 1997 in “Leprosy Review” A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
March 2026 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.