9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
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.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
29 citations
,
February 2016 in “International Journal of Dermatology” People with lichen planus are more likely to have dyslipidemia, especially higher triglyceride levels.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
1 citations
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July 2022 in “PLOS ONE” The study concluded that people with Lichen Planopilaris have a more diverse scalp bacteria and different metabolic pathways compared to healthy individuals.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
220 citations
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June 2013 in “The Journal of Pathology” Lichen planopilaris may be an autoimmune disease causing hair loss due to immune system issues in hair follicles.
1 citations
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January 2021 in “Dermatology online journal” A unique case showed a rare combination of two types of lichen planus on the face.
June 2022 in “Journal of the Liaquat University of Medical and Health Sciences” People with lichen planus are more likely to have abnormal blood fats than healthy people.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
12 citations
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January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
July 2025 in “Russian Journal of Skin and Venereal Diseases” Lichen planus on the scalp can cause scarring hair loss and has four main types.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
45 citations
,
February 2011 in “Journal of the European Academy of Dermatology and Venereology” People with lichen planus have higher bad cholesterol and lower good cholesterol, increasing their risk for heart disease.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
19 citations
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April 2018 in “International Journal of Dermatology” People with Lichen Planopilaris are more likely to have autoimmune diseases, especially Systemic Lupus Erythematosus, and less likely to have diabetes and some other common conditions.