4 citations,
January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
39 citations,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
15 citations,
May 2011 in “Veterinary Dermatology” Vitamin A might be a safe extra treatment for dogs with sebaceous adenitis, but more research is needed to prove its effectiveness.
35 citations,
November 1931 in “Journal of Genetics” Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
16 citations,
April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
January 2025 in “Frontiers in Genetics” Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.
September 1973 in “Primates”
May 2019 in “Small Animal Dermatology” The dog had sebaceous adenitis, treated with ciclosporin, leading to some hair regrowth.
76 citations,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
2 citations,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
5 citations,
May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
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.
2 citations,
November 2011 in “Pediatric dermatology”
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
65 citations,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
August 2022 in “Tissue Engineering Part A” Advancements in skin treatment and wound healing include promising gene therapy, 3D skin models, and potential new therapies.
July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
16 citations,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
10 citations,
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.
7 citations,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
31 citations,
March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.