September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
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.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
February 2026 in “American Journal of Case Reports” AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
2 citations
,
January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
20 citations
,
December 2020 in “Frontiers in Immunology” The immune processes causing VKH and vitiligo are similar in dogs and humans.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
10 citations
,
September 2004 in “PubMed” Vitamin D receptor FokI gene variation is not linked to alopecia areata.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.