A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
6 citations
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December 2021 in “Scientific Reports” Inhibiting class I HDACs helps maintain hair growth ability in skin cells.
Lhx2 helps retinal cells respond to signals for eye development.
January 2026 in “Contemporary Clinical Dentistry” VKHD can include rare oral symptoms like discolored teeth.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
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.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
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.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
February 2018 in “Egyptian Journal of Radiation Sciences and Applications” Patients with Discoid Lupus Erythematosus have lower vitamin D and antioxidant levels and higher oxidative stress.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
4 citations
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January 2022 in “Australasian Journal of Dermatology” Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.
1 citations
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June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
1 citations
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March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
29 citations
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January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
March 2021 in “Indian Journal of Case Reports” A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
46 citations
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December 1992 in “Journal of Investigative Dermatology” Minoxidil decreases LH expression, while hydralazine has mixed effects on prolyl and lysyl hydroxylase activities.
2 citations
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June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
April 2020 in “Journal of the Endocrine Society” An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
April 2016 in “Journal of Investigative Dermatology” Lithocholic acid helps hair growth and regeneration in alopecia by activating vitamin D receptors.