188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
24 citations
,
October 2022 in “Cell Regeneration” A new mouse model effectively mimics vitiligo for research and drug testing.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
14 citations
,
March 2022 in “Clinical Endocrinology” The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
May 2026 in “Mayo Clinic Proceedings” Early diagnosis and coordinated care are crucial for managing lupus effectively.
January 2015 in “Pathology” A 64-year-old man had a rare skin cancer near his ear, unresponsive to antibiotics, with specific skin and hair follicle changes.
10 citations
,
May 2023 in “Journal of Investigative Dermatology” Actinic keratosis is more common in older men with certain genetic traits, but smoking seems to reduce its odds.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
November 2025 in “BMC Endocrine Disorders” The TT/DHT ratio may help identify PCOS patients with severe metabolic issues.
56 citations
,
October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
18 citations
,
June 1993 in “Archives of Dermatological Research” Human hair follicles can be used to create skin-like tissue for wound healing and drug testing.
15 citations
,
April 2019 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
2 citations
,
June 2024 in “JAAD reviews.” Some drugs can cause permanent hair loss, though it's rare.
2 citations
,
January 1989 Researchers developed a method to grow skin-like tissue from hair cells.
September 2023 in “International Journal of Dermatology” Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
January 2021 in “ISGE series” Polycystic ovary syndrome causes chronic inflammation affecting all body systems, but proper nutrition, exercise, and supplements can improve the condition.
254 citations
,
March 2023 in “Diagnostics” The guidelines suggest reconsidering PCOS criteria for better diagnosis and care.
1 citations
,
September 2023 in “Medicine” ABO/Rh blood groups are not a risk factor for PCOS.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” Diagnosing PCOS is challenging due to its complex and varied symptoms.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
56 citations
,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
17 citations
,
May 2022 in “Frontiers in Immunology” Reprogramming macrophages to resolve inflammation can help reduce severe COVID-19 complications.
15 citations
,
August 2010 in “Fertility and sterility” Metformin works better for adolescent girls with PCOS who have certain genetic variations.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
3 citations
,
September 2025 in “Frontiers in Cardiovascular Medicine” Women with PCOS have a higher risk of heart disease.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.