Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
April 2023 in “Indian journal of paediatric dermatology” Early diagnosis and treatment of nail lichen planus in children can prevent permanent nail damage.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
January 2020 in “Journal of Clinical Biochemistry and Nutrition” Low zinc levels in chronic liver disease patients are linked to more severe symptoms like taste issues and skin problems, and zinc supplements might help.
219 citations,
January 2006 in “Drug Metabolism Reviews” DHEA affects multiple receptors and may help with metabolic issues, but its safety and effectiveness in humans are unclear.
76 citations,
January 2010 in “Journal of bone and mineral metabolism” 19 citations,
December 2021 in “Endocrine Reviews” There are various effective hormone treatments for puberty induction in boys and girls with hypogonadism, and starting treatment early is important.
18 citations,
July 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
5 citations,
September 2019 in “The Open biomarkers journal” Linoleic acid (Vitamin F) can help protect against the harmful effects of acrylamide.
September 2023 in “Physiology and Pharmacology” Glucocorticoids can cause various health issues, but some treatments may help reduce these effects.
258 citations,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
71 citations,
May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
62 citations,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
55 citations,
November 2010 in “Development” Hair follicles in mutant mice self-organize into ordered patterns within a week.
53 citations,
July 2018 in “Drug design, development and therapy” Janus kinase inhibitors show promise in treating alopecia areata but need better topical formulations.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
24 citations,
January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
23 citations,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
1 citations,
September 2023 in “Stem cell research & therapy” Mesenchymal stem cells could help treat aging-related diseases better than current methods.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations,
January 2021 in “Skin appendage disorders” Alopecia areata in children is usually mild and effectively treated with strong topical steroids.