June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
102 citations
,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
1 citations
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July 2021 in “Journal of Skin and Sexually Transmitted Diseases” Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
47 citations
,
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.
1 citations
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January 2023 in “Elsevier eBooks” Phospholipases help maintain and restore skin and hair health, potentially leading to new treatments for related conditions.
7 citations
,
July 2013 in “InTech eBooks” Oral lichen planus is a chronic disease causing mouth discomfort and sometimes needs immunosuppressive treatment.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
September 2022 in “The American Journal of Dermatopathology” Blocking IL-17 might help treat the hair loss condition Lichen planopilaris.
57 citations
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January 2013 in “International Journal of Medical Sciences” Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
April 2019 in “Journal of Investigative Dermatology” Lichen planopilaris involves disrupted fat metabolism, increased scarring, and mast cell activity.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
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.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
17 citations
,
September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
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.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
52 citations
,
September 2012 in “Oncogene” 56 citations
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October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
August 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Ixekizumab may be an effective first treatment for a rare skin condition causing hair loss.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
19 citations
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May 2018 in “Molecular Medicine Reports” miR‑339‑5p can slow down hair follicle stem cell differentiation by targeting DLX5.