April 2023 in “Journal of Investigative Dermatology” An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
24 citations
,
December 2018 in “Life sciences” Lysophosphatidic acid is important for skin health and disease, and could be a target for new skin disorder treatments.
52 citations
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September 2012 in “Oncogene” 13 citations
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February 2025 in “ChemMedChem” Lipid nanoparticles improve treatment delivery and are key to future therapies, but challenges in manufacturing and safety remain.
1 citations
,
October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
April 2016 in “Journal of The American Academy of Dermatology” Lichen planus may be associated with a higher risk of metabolic syndrome.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
20 citations
,
October 2005 in “Archives of Dermatological Research” 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.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
April 2023 in “IP Indian journal of clinical and experimental dermatology” Lichen planus is a chronic autoimmune disease that is hard to treat and more common in women.
30 citations
,
May 2008 in “International Journal of Dermatology” Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
35 citations
,
November 2019 in “Journal of the American Academy of Dermatology” A new variant of lichen planopilaris causing diffuse hair thinning was identified.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
18 citations
,
May 2006 in “Journal of Cutaneous Medicine and Surgery” Linear lichen planopilaris can affect the trunk, not just the face.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
24 citations
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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Scarred skin in lichen planopilaris loses immune cells due to a decrease in a specific protein in skin cells.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
12 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
January 2025 in “International journal of research studies in biosciences” Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
5 citations
,
June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.