November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Disrupted cholesterol production impairs hair follicle stem cells, leading to hair loss.
January 2000 in “Alambique: Didáctica de las ciencias experimentales” Cholesterol issues in skin and hair may cause permanent hair loss by triggering inflammation.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
December 2019 in “Medicina estética/Medicina estética” PRP may help improve hair transplant results.
December 2019 in “Medicina estética/Medicina estética” PRP may help improve hair transplant results.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
114 citations
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March 2018 in “PLOS Medicine” Women with PCOS are more than twice as likely to develop nonalcoholic fatty liver disease.
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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
41 citations
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January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
May 2015 in “Journal of The American Academy of Dermatology”
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
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.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
1 citations
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February 2016 in “Revista Brasileira de Ginecologia e Obstetrícia” High Lipid Accumulation Product levels are linked to more hirsutism in women with Polycystic Ovary Syndrome.
12 citations
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June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.