October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
43 citations
,
April 2017 in “Experimental Dermatology” Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
July 2024 in “JAAD Case Reports” Ruxolitinib helped regrow hair in a woman with a blood disorder and complete hair loss.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
July 2019 in “International journal of contemporary medical research” Men with genetic hair loss are more likely to have abnormal blood lipid levels, especially if the hair loss is severe.
80 citations
,
April 2018 in “Trends in Molecular Medicine” Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
January 2010 in “Elsevier eBooks” Hair transplantation is a treatment for hair loss mainly caused by genetics, with various techniques and potential complications, and results visible after 8-12 months.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
24 citations
,
May 2018 in “Journal of Molecular Endocrinology” The spiny mouse is a unique menstruating rodent that can help us understand menstruation and reproductive disorders.
23 citations
,
April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
10 citations
,
December 2015 in “Clinics in Dermatology” Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
4 citations
,
March 2017 in “Journal of evolution of medical and dental sciences” Older adults often have dry skin and itching, with high blood pressure frequently linked to skin problems.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
January 2012 in “Methods in pharmacology and toxicology” TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
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.
253 citations
,
March 2006 in “The Journal of Clinical Endocrinology and Metabolism” Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
38 citations
,
February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
3 citations
,
December 2011 in “Pediatric Dermatology” The patient's long-term hair loss was caused by leukemia treatments and low estrogen levels, worsened by her genetic tendency for hair loss.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
November 2016 in “Endocrinology&Metabolism International Journal” PCOS has no cure, but treatments can manage symptoms and improve health.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
39 citations
,
October 1967 in “British Journal of Dermatology” Hair loss in women often doesn't follow a pattern, isn't linked to age, may be genetic, and can be related to thyroid issues or other health factors.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.